ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.622C>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000826180 SCV000967719 likely pathogenic Hypertrophic cardiomyopathy 2018-09-19 criteria provided, single submitter clinical testing The p.Gln208X variant in MYBPC3 has not been previously reported in individuals with cardiomyopathy and was absent from large population studies. This nonsense variant leads to a premature termination codon at position 208, which is predict ed to lead to a truncated or absent protein. Loss of function of the MYBPC3 gene is an established disease mechanism in autosomal dominant hypertrophic cardiomy opathy. In summary, although additional studies are required to fully establish its clinical significance, the p.Gln208X variant is likely pathogenic. ACMG/AMP Criteria applied: PVS1, PM2.

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