ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.2696C>A (p.Ala899Glu) (rs730880753)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000158561 SCV000208496 likely pathogenic not provided 2013-12-02 criteria provided, single submitter clinical testing p.Ala899Glu (GCA>GAA): c.2696 C>A in exon 23 of the MYH7 gene (NM_000257.2). The Ala899Glu variant in the MYH7 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. The Ala899Glu variant is a non-conservative amino acid substitution as these residues differ in polarity, charge, size and/or other properties and is more likely to impact secondary structure. The Ala899 residue is conserved through mammals and fowl. However, in silico analysis was inconsistent with regard to the effect this variant may have on the protein structure/function. Nevertheless, mutations in nearby residues (Ala893Val, Glu894Gly, Ala901Pro, Ala901Gly, Glu903Lys, Glu903Gly) have been reported in association with cardiomyopathy, supporting the functional importance of this region of the protein. Furthermore, the Ala899Glu variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. In summary, while Ala899Glu is a good candidate for a disease-causing mutation, 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 DCM-CRDM panel(s).

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