ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1826C>T (p.Ala609Val) (rs730880553)

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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 RCV000208134 SCV000264029 uncertain significance Primary dilated cardiomyopathy 2015-05-20 criteria provided, single submitter clinical testing
GeneDx RCV000158122 SCV000208057 likely pathogenic not provided 2013-02-12 criteria provided, single submitter clinical testing The Ala609Val variant in the MYBPC3 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Ala609Val results in a conservative amino acid substitution of one non-polar amino acid for another at a position that is only moderately conserved across species, but located in a well-conserved region. Numerous mutations in nearby residues (Asp604Val, Asp605Asn, Asp605His, Asp605Gly, Pro608Leu, Asp610Asn, Asp610His) have been reported in association with HCM, further supporting the functional importance of this region of the protein. In addition, Ala609Val was absent from the 1000 Genomes database, and the NHLBI Exome Sequencing Project reports Ala609Val was not observed in approximately 6,000 samples from individuals of European and African American backgrounds, indicating it is not a common benign variant in these populations. With the clinical and molecular information available at this time, we cannot definitively determine if Ala609Val is a disease-causing mutation or a rare benign variant. The variant is found in HCM panel(s).

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