ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.2348G>C (p.Arg783Pro) (rs397516142)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000035784 SCV000059435 likely pathogenic Primary dilated cardiomyopathy 2017-08-30 criteria provided, single submitter clinical testing The p.Arg783Pro variant in MYH7 has been reported as an apparently de novo occur rence in 1 individual with DCM and skeletal myopathy (Homayoun 2011). This varia nt was absent from large population studies, but has been reported in ClinVar (V ariation ID: 42895). Of note, this variant lies in the head region of the protei n. Missense variants in this region have been reported and statistically indicat ed to be more likely to cause disease (Walsh 2016). In summary, although additio nal studies are required to fully establish its clinical significance, the p.Arg 783Pro variant is likely pathogenic.
Blueprint Genetics RCV000157360 SCV000207098 likely pathogenic Primary familial hypertrophic cardiomyopathy 2014-09-10 no assertion criteria provided clinical testing

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