ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2371C>T (p.Gln791Ter) (rs863225106)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000201498 SCV000256167 likely pathogenic Familial hypertrophic cardiomyopathy 4 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618778 SCV000740176 pathogenic Cardiovascular phenotype 2017-06-14 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute RCV001089632 SCV001245110 pathogenic Hypertrophic cardiomyopathy 2018-08-07 criteria provided, single submitter research MYBPC3 Gln791Ter has been previously reported in 1 HCM proband (Walsh R, et al., 2017) and has been identified in a HCM proband from both Royal Brisbane Hospital and the University de Sao Paulo (Pers. Comm.). We identified this variant in an individual diagnosed with HCM. This patient's deceased father died suddenly and was suspected to have HCM on postmortem, segregation analysis was however not possible. The variant is absent from the Genome Aggregation Database ( Based on the adapted ACMG guidelines (Kelly MA, et al., 2018), this variant results in loss of function of MYBPC3 (PVS1), is rare in the general population (PM2) and has been identified in at least 4 probands (PS4_supporting), therefore we classify MYBPC3 Gln791Ter as 'pathogenic'.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001170420 SCV001332998 pathogenic Cardiomyopathy 2018-05-15 criteria provided, single submitter clinical testing

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