ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.617A>G (p.Lys206Arg) (rs730880846)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000158751 SCV000208686 likely pathogenic not provided 2012-05-21 criteria provided, single submitter clinical testing p.Lys206Arg (AAG>AGG): c.617 A>G in exon 7 of the MYH7 gene (NM_000257.2). The Lys206Arg variant in the MYH7 gene has not been reported previously as a disease-causing mutation nor as a benign polymorphism, to our knowledge. Mutations in nearby codons (Arg204His, Lys207Gln) have been reported in association with hypertrophic cardiomyopathy, supporting the functional importance of this region of the protein. In addition, the NHLBI ESP Exome Variant Server reports Lys206Arg 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. However, the Lys206Arg variant results in a conservative substitution of one positively charged amino acid for another. While the Lys206 residue is conserved across mammal species, in silico analysis predicts the Lys206Arg variant has a benign effect on the protein structure and function. In summary, the clinical significance of the Lys206Arg variant in the MYH7 gene is currently unknown. The variant is found in DCM panel(s).

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