ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.3331-2A>C (rs869025469)

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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 RCV000208403 SCV000264059 likely pathogenic Primary familial hypertrophic cardiomyopathy 2015-12-07 criteria provided, single submitter clinical testing
GeneDx RCV000270014 SCV000330210 pathogenic not provided 2016-06-16 criteria provided, single submitter clinical testing Although the c.3331-2 A>C variant has not been reported in the literature as a pathogenic variant or as a benignvariant to our knowledge, it destroys the canonical splice acceptor site in intron 30 and is predicted to cause abnormalgene splicing. This variant is predicted to lead to either an abnormal message that is subject to nonsense-mediatedmRNA decay, or to an abnormal protein product if the message is used for protein translation. Other splice sitevariants in the MYBPC3 gene have been reported in HGMD in association with HCM (Stenson et al., 2014).Furthermore, the c.3331-2 A>C variant was not observed in approximately 6,100 individuals of European and AfricanAmerican ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in thesepopulations.In summary, c.3331-2 A>C in the MYBPC3 gene is interpreted as a pathogenic variant.

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