ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.932C>A (p.Ser311Ter) (rs193922386)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000603903 SCV000744859 pathogenic Familial hypertrophic cardiomyopathy 4 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000603903 SCV000733057 pathogenic Familial hypertrophic cardiomyopathy 4 no assertion criteria provided clinical testing
GeneDx RCV000158304 SCV000208239 pathogenic not provided 2016-11-09 criteria provided, single submitter clinical testing The S311X mutation in the MYBPC3 gene has been reported previously in association with hypertrophic cardiomyopathy (HCM) (Waldmuller et al., 2008). This mutation is predicted to cause loss of normal protein function through protein truncation or absence of protein product due to nonsense-mediated mRNA decay. Other nonsense mutations in MYBPC3 (G263X, S297X, Y340X) have been reported in association with HCM.
Integrated Genetics/Laboratory Corporation of America RCV000030293 SCV000052960 likely pathogenic Primary familial hypertrophic cardiomyopathy 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000844687 SCV000198940 pathogenic Hypertrophic cardiomyopathy 2015-01-14 criteria provided, single submitter clinical testing The p.Ser311X variant in MYBPC3 has been reported in 4 individuals with HCM (Wal dmuller 2008, Nannenberg 2011, Hoedemaekers 2011- in: Michels 2011, doctoral the sis) and was absent from large population studies. This variant has also been id entified by our laboratory in 1 Caucasian individual with HCM. This nonsense var iant leads to a premature termination codon at position 311, which is predicted to lead to a truncated or absent protein. Heterozygous loss-of-function of the M YBPC3 gene is an established disease mechanism in individuals with HCM. In summa ry, this variant meets our criteria to be classified as pathogenic (http://pcpgm based on the predicted impact of the variant.

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