ClinVar Miner

Submissions for variant NM_005159.5(ACTC1):c.854T>C (p.Met285Thr) (rs869025354)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208529 SCV000263756 uncertain significance Primary familial hypertrophic cardiomyopathy 2015-11-24 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000219756 SCV000271488 uncertain significance not specified 2015-04-07 criteria provided, single submitter clinical testing The p.Met285Thr variant in ACTC1 has not been previously reported in individuals with cardiomyopathy or large population studies. Computational prediction tools and conservation analysis suggest that this variant may impact the protein, tho ugh this information is not predictive enough to determine pathogenicity. In sum mary, the clinical significance of the p.Met285Thr variant is uncertain.

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