ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.2974C>A (p.Leu992Met) (rs149840927)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000158581 SCV000208516 likely pathogenic not provided 2013-06-04 criteria provided, single submitter clinical testing p.Leu992Met (CTG>ATG): c.2974 C>A in exon 24 of the MYH7 gene (NM_000257.2). The Leu992Met variant in the MYH7 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Although Leu992Met results in a conservative amino acid substitution of one non-polar residue for another, the Leu992 residue is conserved across species. In silico analysis predicts Leu992Met is probably damaging to the protein structure/function. Furthermore, the Leu992Met variant was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. In summary, Leu992Met in MYH7 is a good candidate for disease-causing mutation, but with the clinical and molecular information available at this time we cannot unequivocally determine the clinical significance of this variant. The variant is found in HCM panel(s).

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