ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.2018T>G (p.Ile673Ser) (rs730880884)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000158825 SCV000208760 likely pathogenic not provided 2012-04-26 criteria provided, single submitter clinical testing p.Ile673Ser (ATC>AGC): c.2018 T>G in exon 18 of the MYH7 gene (NM_000257.2). The Ile673Ser variant in the MYH7 gene has not been reported previously as a disease-causing mutation or as a benign variant, to our knowledge. Ile637Ser results in a non-conservative amino acid substitution of a non-polar Isoleucine residue with a neutral, polar Serine residue at a position that is conserved across species throughout evolution. In silico analysis predicts Ile637Ser is probably damaging to the structure/function of the protein, and mutations affecting nearby residues (Arg663Cys, Arg663His, Arg663Ser, Arg671Cys) have been reported in association with cardiomyopathy, supporting the functional importance of this region of the protein. The NHLBI ESP Exome Variant Server reports Ile673Ser was not observed in approximately 5,000 samples from individuals of European and African American backgrounds, indicating it is not a common benign variant in these populations. Therefore, Ile673Ser is a strong candidate for a disease-causing mutation, however the possibility that it is a benign variant cannot be excluded. The variant is found in DCM panel(s).

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