ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1841A>G (p.Tyr614Cys) (rs727503194)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000158438 SCV000208373 uncertain significance not provided 2017-12-22 criteria provided, single submitter clinical testing The Y614C variant of uncertain significance in the MYBPC3 gene has previously been reported in association with HCM (Walsh et al., 2017). It has also been identified in one other unrelated individual referred for HCM genetic testing at GeneDx. This variant is not observed in large population cohorts (Lek et al., 2016). The Y614C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In addition, in-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. However, this variant lacks observation in a significant number of affected individuals, segregation data, and functional evidence, which would further clarify its pathogenicity.
Blueprint Genetics RCV000208389 SCV000264030 likely pathogenic Primary familial hypertrophic cardiomyopathy 2015-09-07 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769325 SCV000900703 uncertain significance Cardiomyopathy 2016-08-19 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000151113 SCV000198880 uncertain significance not specified 2013-01-30 no assertion criteria provided clinical testing proposed classification - variant undergoing re-assessment, contact laboratory

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