ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.2473A>C (p.Lys825Gln) (rs730880743)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000158540 SCV000208475 likely pathogenic not provided 2012-03-19 criteria provided, single submitter clinical testing The Lys825Gln mutation in the MYH7 gene has not been previously reported as a disease-causing mutation or as a benign polymorphism, to our knowledge. Lys825Gln results in a semi-conservative amino acid substitution of a positively charged Lysine with a neutral, polar Glutamine at a position that is conserved across species. In silico analysis predicts Lys825Gln is probably damaging to protein structure/function. Mutations in nearby codons (Met822Thr, Met822Val, Gly823Glu, Val824Ile, Trp827Cys) have been reported in association with cardiomyopathy, further supporting the functional importance of this region of the protein. The NHLBI ESP Exome Variant Server reports Lys825Gln 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. The variant is found in HCM panel(s).

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