Evidence Repository - Clinical Genome Resources

The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

Variant: NM_000257.3(MYH7):c.428G>A (p.Arg143Gln)

Curation History

CA014774

43006 (ClinVar)

Gene: MYH7

Condition: hypertrophic cardiomyopathy

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 0c17fdbf-8ecb-44db-9b84-c261d47f1dff

Approved on: 2015-12-16

Published on: 2018-11-16

HGVS expressions

NM_000257.3:c.428G>A

NM_000257.3(MYH7):c.428G>A (p.Arg143Gln)

NC_000014.9:g.23432713C>T

CM000676.2:g.23432713C>T

NC_000014.8:g.23901922C>T

CM000676.1:g.23901922C>T

NC_000014.7:g.22971762C>T

NG_007884.1:g.7949G>A

NM_000257.4:c.428G>A

ENST00000355349.3:c.428G>A

Likely Pathogenic

PS4 PP1 PM2

Evidence Links 7

Expert Panel

Cardiomyopathy VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Cardiomyopathy VCEP

The c.428G>A (p.Arg143Gln) variant in MYH7 has been reported in >20 individuals with hypertrophic cardiomyopathy (PS4; PMID:15563892; PMID:15358028; PMID:21252143; PMID:20075948; PMID:21239446; PMID:22765922; PMID:24093860; Partners LMM ClinVar SCV000059551.5). This variant segregated with disease in 4 affected individuals (PP1; Partners LMM ClinVar SCV000059551.5). This variant has been identified in 1/66732 European chromosomes (PM2; http://exac.broadinstitute.org). In summary, this variant meets criteria to be classified as likely pathogenic for hypertrophic cardiomyopathy in an autosomal dominant manner. MYH7-specific ACMG/AMP criteria applied (PMID:29300372): PS4; PM2; PP1

PS4

>20 affected cases between literature, internal lab data, SHaRe network

Variant identified in 1 case with HCM PubMed:22765922

Variant found in 1 case with HCM PubMed:24093860

Variant found in two unrelated cases with HCM PubMed:20075948

Variant found in 1 case with HCM PubMed:21239446

Variant found in 1 case with HCM PubMed:15358028

Variant found in 1 case with HCM PubMed:21252143

Variant found in two unrelated cases with HCM PubMed:15563892

PP1

4 segregations (internal lab data from LMM; ClinVar SCV000059551.5)

PM2

1/66732 in ExAC

Curation History

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