ClinVar Miner

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

dbSNP: 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 Cardiomyopathy Variant Curation Expert Panel RCV000035980 SCV000564462 uncertain significance Primary dilated cardiomyopathy 2021-10-13 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 DCM and in 2 affected relatives (Partners LMM ClinVar SCV000059632.5); however this data is currently insufficient to establish co-segregation and apply PP1. This variant was absent from large population studies (PM2;, v2.1.1). Computational prediction tools and conservation analysis suggest that this variant may impact the protein (PP3). This variant was previously classified as likely pathogenic for DCM by this expert panel (EP) based on clinical judgement; however, upon re-evaluation, the EP has deemed that uncertain significance was more appropriate based on the available evidence. In summary, this variant is classified as uncertain significance for dilated cardiomyopathy in an autosomal dominant manner. MYH7-specific ACMG/AMP criteria applied (Kelly 2018 PMID:29300372): PM6, PM2, PP3.
Laboratory for Molecular Medicine, Mass General Brigham 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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