ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.29G>C (p.Gly10Ala) (rs730880826)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000158720 SCV000208655 likely pathogenic not provided 2014-04-08 criteria provided, single submitter clinical testing .p.Gly10Ala (GGG>GCG): c.29 G>C in exon 3 of the MYH7 gene (NM_000257.2). The G10A variant that is likely pathogenic was identified in the MYH7 gene. It has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The G10A variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Although the G10A variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties, this substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Missense mutations in nearby residues (S4L, A13T) have been reported in association with HCM, supporting the functional importance of this region of the protein. Therefore, this variant is a strong candidate for a pathogenic mutation, however the possibility that it is a benign variant cannot be excluded. The variant is found in CARDIOMYOPATHY panel(s).
Blueprint Genetics RCV000158720 SCV000927635 uncertain significance not provided 2018-04-18 criteria provided, single submitter clinical testing

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