ClinVar Miner

Submissions for variant NM_003803.4(MYOM1):c.2428C>T (p.Arg810Trp) (rs776727177)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000825987 SCV000967475 uncertain significance not specified 2018-03-14 criteria provided, single submitter clinical testing The p.Arg810Trp variant in MYOM1 has not been previously reported in individuals with cardiomyopathy, but has been identified in 4/276752 chromosomes by the Gen ome Aggregation Database (gnomAD,; dbSNP rs7767 27177). Computational prediction tools and conservation analysis suggest that th e p.Arg810Trp variant may impact the protein, though this information is not pre dictive enough to determine pathogenicity. In summary, the clinical significance of the p.Arg810Trp variant is uncertain. ACMG/AMP Criteria applied: PP3, PM2.

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