Table 2 Detailed information of the clinically relevant variants identified in the family
Gene | Status | Variations | MAF (GnomAD) | ClinVar | LOVD | SIFT | Poly-Phen2 | Mutat taster | ACMG | dSNP ID |
|---|---|---|---|---|---|---|---|---|---|---|
USH2A | HET | M1: c.923_924dupGCCA p. His308Glnfs*16 | 0.0000568 (16 alleles, 0 Hom) | P (ID: 48615) | P | _ | _ | _ | 5 (P) | rs397518043 |
USH2A | HET | M2: c.1000C>T p.Arg334Trp | 0.0000531 (15 alleles, 0 Hom) | P/LP (ID: 228411) | P | _ | _ | _ | 5 (P) | rs397517963 |
USH2A | HET | M3: c.2276G>T p.Cys759Phe | 0.0009677 (273 alleles, 0 Hom) | P/LP (ID: 2356) | P/LP | _ | _ | _ | 4 (LP) | rs80338902 |
USH2A | HET | M4: c.12560G>A p. Arg4187His | 0.0000213 (6 alleles, 0 Hom) | N.R. | N.R. | D 100% | B (0.066) | SNP | 3 (VUS) | rs147304271 |
PDZD7 | HET | M5: c.1543C>T p.Gln515* | 0.0000134 (2 alleles, 0 Hom) | N.R. | N.R. | D 100% | _ | DC | 5 (P) | rs979094623 |
ADGRV1 | HET | M6: c.13165_13166 insTGGAA CTCCAGG AGGG p.Gly4360Glufs*10 | _ | N.R. | N.R. | _ | PD (0.999) | DC | 4 (LP) | _ |