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Table 3 Variants interpreted as P/LP by ACMG/AMP 2015 guidelines and in the Clinvar database

From: Genetic characterization of dilated cardiomyopathy patients undergoing heart transplantation in the Chinese population by whole-exome sequencing

Gene

Transcript

Coding change

Protein change

Pathogenicity assessment

Interpretation in Clinvar

BAG3

NM_004281

c.C268T

p.R90X

P

P

DSP

NM_004415

c.C6496T

p.R2166X

P

P/LP

FLNC

NM_001458

c.5842 + 1G > A

 

P

LP

FLNC

NM_001458

c.C805T

p.R269X

P

P

FLNC

NM_001458

c.G1730A

p.W577X

P

P

LMNA

NM_005572

c.C568T

p.R190W

LP

P

LMNA

NM_005572

c.C673T

p.R225X

P

P

LMNA

NM_005572

c.G4T

p.E2X

P

P

MYH7

NM_000257

c.C427T

p.R143W

LP

P/LP

MYH7

NM_000257

c.G1106A

p.R369Q

LP

LP

TNNT2

NM_000364

c.650_652del

p.217_218del

LP

P/LP

TNNT2

NM_000364

c.C418T

p.R140C

P

P/LP

TNNT2

NM_000364

c.C451T

p.R151W

P

P

TTN

NM_001256850

c.82741_82748del

p.D27581fs

P

LP

TTN

NM_001256850

c.89421_89424del

p.K29807fs

P

P/LP

TTN

NM_001256850

c.C80344T

p.R26782X

P

LP

TTN

NM_001256850

c.C82117T

p.R27373X

P

P

TTN

NM_001256850

c.C95419T

p.R31807X

P

LP

  1. ACMG/AMP American College of Medical Genetics and Genomics and the Association for Molecular Pathology, BAG3 BAG cochaperone 3, DSP desmoplakin, FLNC filamin C, LMNA lamin A/C, LP likely pathogenic, MYH7 myosin heavy chain 7, P pathogenic, TNNT2 troponin T2, cardiac type, TTN titin
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Journal of Translational Medicine

ISSN: 1479-5876

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