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Table 1 Demographic, genetic and clinical characteristics of probands

From: Pathogenicity of new BEST1 variants identified in Italian patients with best vitelliform macular dystrophy assessed by computational structural biology

Proband ID Gender Agea [years] Exon/intron Nucleotide change Amino acid change Allele state dbSNP/ClinVar accession number Variant classificationb MAF New or known variants Best’s disease stagec BCVAd
LE RE LE RE
P1 M 50 ex2 c.5C>T p.(Thr2Ile) HET NA Likely pathogenic NA Kinnick (2011) 5 5 0.1 0.4
P2 F 42 ex2 c.11C>T p.(Thr4Ile) HET NA Likely pathogenic NA Tian (2014) 2 2 0 0
P3* F 13 ex2 c.11C>T p.(Thr4Ile) HET NA Likely pathogenic NA Kinnick (2011) 1 1 0.1 0.1
P4* M 27 ex2 c.26T>G p.(Val9Gly) HET SCV000599452 Likely pathogenic NA NEW 2 2 0 0.6
P5 F 34 ex2 c.44G>A p.(Gly15Asp) HET NA Likely pathogenic NA Querques (2009) NA NA NA NA
P6 M 22 ex2 c.44G>A p.(Gly15Asp) HET NA Likely pathogenic NA Querques (2009) 3 4 0 0.2
P7 F 13 ex2 c.44G>A p.(Gly15Asp) HET NA Likely pathogenic NA Querques (2009) 0 3 0 0.22
P8* M 56 ex2 c.47C>T p.(Ser16Phe) HET rs281865210 Likely pathogenic NA Marchant (2001) 2 2 0.1 0.7
P9 F 23 ex2 c.74G>A p.(Arg25Gln) HET rs281865215 Likely pathogenic A = 0.000008 (Topmed) Marquardt (1998) 4 2 0.5 0
P10 F 47 ex1 c.80G>C p.(Ser27Thr) HET NA Likely pathogenic NA Bernardis (2016) 3 4 0.1 0.2
P11* F 55 ex2 c.80G>C p.(Ser27Thr) HET NA Likely pathogenic NA Bernardis (2016) 2 2 NA NA
P12 F 52 ex2 c.80G>C p.(Ser27Thr) HET NA Likely pathogenic NA Bernardis (2016) 3 3 0.7 1
P13* M 10 ex2 c.86A>G p.(Tyr29Cys) HET NA Likely pathogenic NA Downs (2007) 4 4 0 0
P14 F 27 ex4 c.274C>T p.(Arg92Cys) HOM rs281865224 Pathogenic NA Bakall (1999) NA NA NA NA
P15 M 42 ex4 c.278G>C p.(Trp93Ser) HET NA Likely pathogenic NA Tian (2017) NA NA NA NA
P16* M 70 ex4 c.301C>A p.(Pro101Thr) HET rs281865229 Likely pathogenic NA Lotery (2000) 4 3 0.5 0
P17 M 26 ex4 c.324C>G p.(Ser108Arg) HET SCV000747137 Vus NA NEW 2 2 0.1 1
P18 M 46 ex5 c.535A>G p.(Asn179Asp) HET SCV000599453 Likely pathogenic NA NEW 1 2 0.3 0.3
P19 F 13 ex5 c.544T>C p.(Trp182Arg) HET SCV000747139 Vus NA NEW 4 4 NA NA
P20* M 19 ex5 c.598C>T p.(Arg200*) HET rs121918286 Pathogenic T = 0.00002/3 (ExAC) Burgess (2008) NA NA NA NA
    ex7 c.728C>A p.(Ala243Glu) HET NA Likely pathogenic NA Fung (2014) NA NA NA NA
P21* F 25 ex6 c.652C>T p.(Arg218Cys) HET rs281865238 Pathogenic NA Johnson (2013) 2 2 0.1 0
P22 F 13 ex6 c.652C>T p.(Arg218Cys) HET rs281865238 Pathogenic NA Johnson (2013) 0 3 0 0.17
P23 M 14 ex6 c.652C>T p.(Arg218Cys) HET rs281865238 Pathogenic NA Johnson (2013) 2 2 0.4 0
P24 M 42 ex6 c.652C>A p.(Arg218Ser) HET rs281865238 Likely pathogenic NA Bakall (1999) 3 3 0.5 0.4
P25 M 54 ex5 c.695T>A p.(Ile232Asn) HET NA Likely pathogenic NA Wabbels (2006) 3 3 0.6 0.8
P26 M 17 ex6 c.703G>T p.(Val235Leu) HET NA Likely pathogenic NA Marchant (2001) 3 3 0.1 0.1
P27* F 51 ex7 c.727G>A p.(Ala243Thr) HET rs137853905 Pathogenic NA Lotery (2000) 2 2 1 1
P28 M 49 ex7 c.728C>T p.(Ala243Val) HET rs28940570 Pathogenic T = 0.000008/1 (ExAC) White (2000) 3 3 0.1 0
P29* F 43 ex7 c.728C>T p.(Ala243Val) HET rs28940570 Pathogenic T = 0.000008/1 (ExAC) White (2000) 3 2 0.2 0.2
P30* F 50 ex7 c.728C>T p.(Ala243Val) HET rs28940570 Pathogenic T = 0.000008/1 (ExAC) White (2000) NA NA NA NA
P31* M 9 ex8 c.874G>C p.(Glu292Gln) HET SCV000747140 Likely pathogenic NA NEW 2 2 1 1
P32 M 39 ex8 c.888C>G p.(Asn296Lys) HET SCV000802932 Pathogenic NA NEW 3 3 0.1 0.3
P33 F 41 ex8 c.888C>A p.(Asn296Lys) HET NA Pathogenic NA Boon (2007) 2 2 0.3 0.3
P34 M 10 ex8 c.893T>G p.(Phe298Cys) HET NA Likely pathogenic NA Meunier (2011) NA NA NA NA
P35 M 53 ex8 c.893T>G p.(Phe298Cys) HET NA Likely pathogenic NA Meunier (2011) NA NA NA NA
P36* M 21 ex8 c.903T>G p.(Asp301Glu) HET rs281865261 Pathogenic NA Caldwell (1999) NA NA 0 0.6
  1. HET heterozygous, HOM homozygous, rs# single nucleotide polymorphisms identifier as recorded in the Single Nucleotide Polymorphism Database (dbSNP), SCV# novel variants have been registered in the database of genotype–phenotype associations ClinVar, MAF minor allele frequency, New new variant detected in this study, NA not available
  2. aAge of proband at last clinical evaluation
  3. bIn italics, classified in this study according to ACMG Standards and Guidelines; normal, ClinVar last evaluation; VUS, variant of uncertain significance
  4. cBest’s disease stages of left (LE) and right eye (RE) as diagnosed in probands at the age of last clinical evaluation (stages 1 to 5)
  5. dBCVA (best-corrected visual acuity) in logMAR scale (logarithm of Minimum Angle of Resolution), logMAR 0/0 (LE/RE) indicates standard vision, logMAR > 0.5/0.5 indicates low vision, logMAR > 1.3/1.3 m indicates blindness
  6. * Family segregation analysis
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Journal of Translational Medicine

ISSN: 1479-5876

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