Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular 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, |
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. |