ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2604_2605delinsA (p.Ser871fs)

dbSNP: rs727504371
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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, Mass General Brigham Personalized Medicine RCV000154510 SCV000204181 pathogenic Hypertrophic cardiomyopathy 2013-03-05 no assertion criteria provided clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute RCV000154510 SCV001430843 pathogenic Hypertrophic cardiomyopathy 2019-12-06 no assertion criteria provided research The MYBPC3 Ser871Alafs*8 variant has been seen previously in >10 HCM probands (Lopes JR, et al., 2013; Jacques A, et al., 2008; Walsh et al., 2017) and is absent in the Genome Aggregation Database (http://gnomad.broadinstitute.org/). We identified this variant in a HCM proband with no family history of disease or sudden cardiac death (Ingles et al, 2017). Based on the adapted ACMG guidelines (Kelly MA, et al., 2018) this variant results in loss of function of MYBPC3 (PVS1), has been reported in more than 10 unrelated HCM probands (PS4) and is rare in the general population (PM2), therefore we classify MYBPC3 Ser871Alafs*8 as a "pathogenic" variant.

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