ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.1477A>G (p.Met493Val) (rs730880875)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622058 SCV000740192 likely pathogenic Cardiovascular phenotype 2017-07-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,Structural Evidence,Rarity in general population databases (dbsnp, esp, 1000 genomes),In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
GeneDx RCV000158807 SCV000208742 likely pathogenic not provided 2018-12-10 criteria provided, single submitter clinical testing The M493V likely pathogenic variant in the MYH7 gene has been reported in association with HCM (Meyer et al., 2013; Walsh et al., 2017). This variant is not observed in large population cohorts (Lek et al., 2016). Although the M493V variant is a conservative amino acid substitution, in-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. This variant is located in the myosin motor domain, a region enriched with missense variants reported in association with cardiomyopathy (Kelly et al., 2018). In summary, M493V in the MYH7 gene is interpreted as a likely pathogenic variant.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000213209 SCV000272032 likely pathogenic Hypertrophic cardiomyopathy 2019-02-26 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory

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