ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1000G>T (p.Glu334Ter) (rs573916965)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000844686 SCV000204157 pathogenic Hypertrophic cardiomyopathy 2016-01-11 criteria provided, single submitter clinical testing The p.Glu334X variant in MYBPC3 has been identified by our laboratory in 1 indiv idual with HCM and was absent from large population studies. This nonsense varia nt leads to a premature termination codon at position 334, which is predicted to lead to a truncated or absent protein. Heterozygous loss-of-function of the MYB PC3 gene is an established disease mechanism in individuals with HCM. In summary , this variant meets our criteria to be classified as pathogenic (http://pcpgm.p artners.org/LMM) based on the predicted impact of the variant.
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625311 SCV000744857 pathogenic Familial hypertrophic cardiomyopathy 4 2015-09-21 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000211794 SCV000748024 pathogenic Primary familial hypertrophic cardiomyopathy 2017-03-06 criteria provided, single submitter clinical testing

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