ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.1477_1478del (p.Met493fs) (rs727504336)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, RCV000154450 SCV000564416 uncertain significance Cardiomyopathy 2016-12-15 reviewed by expert panel curation The c.1477_1478delAT (p.Met493Valfs) variant has been identified in 1 proband with cardiomyopathy (Partners LMM ClinVar SCV000204119.3). This variant was absent from large population studies (PM2; http://exac.broadinstitute.org). This variant is predicted to cause a frameshift leading to a truncated or absent protein; while the contribution of LOF variants in MYH7 to autosomal dominant inherited cardiomyopathy is incompletely understood, there is evidence supporting these variants as a mechanism of disease (PVS1_Moderate). In summary, this variant meets criteria to be classified as uncertain significance for cardiomyopathy in an autosomal dominant manner. MYH7-specific ACMG/AMP criteria applied (PMID:29300372): PVS1_Moderate, PM2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000599624 SCV000204119 likely pathogenic Primary dilated cardiomyopathy 2016-04-26 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory

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