ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.5726G>C (p.Arg1909Pro) (rs397516253)

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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, RCV000035980 SCV000564462 likely pathogenic Primary dilated cardiomyopathy 2016-12-15 reviewed by expert panel curation The c.5726G>C (p.Arg1909Pro) variant in MYH7 has been reported as a de novo occurrence in 1 individual with dilated cardiomyopathy and myopathy features (PM6; Partners LMM ClinVar SCV000059632.5). Additionally, this variant reportedly segregated with disease in 2 affected family members (Partners LMM ClinVar SCV000059632.5). This variant was absent from large population studies (PM2; http://exac.broadinstitute.org). Computational prediction tools and conservation analysis suggest that this variant may impact the protein (PP3). Based on criteria selected, this variant would be classified as uncertain significance; however the expert panel felt that the available evidence was sufficiently borderline and the presence of DCM along with myopathy provided some degree of additional specificity. Therefore, the final classification was likely pathogenic for dilated cardiomyopathy in an autosomal dominant manner. MYH7-specific ACMG/AMP criteria applied (PMID:29300372): PM2; PM6; PP3
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000035980 SCV000059632 likely pathogenic Primary dilated cardiomyopathy 2014-01-06 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory

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