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

  • See Evidence submitted by expert panel for details.

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

CA014774

43006 (ClinVar)

Gene: MYH7
Condition: hypertrophic cardiomyopathy
Inheritance Mode: Autosomal dominant inheritance
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
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Likely Pathogenic

Met criteria codes 3
PS4 PP1 PM2

Evidence Links 7

Expert Panel

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
Met criteria codes
PS4
>20 affected cases between literature, internal lab data, SHaRe network

PP1
4 segregations (internal lab data from LMM; ClinVar SCV000059551.5)
PM2
1/66732 in ExAC
Curation History
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