ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.649G>C (p.Glu217Gln) (rs730880847)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000158754 SCV000208689 likely pathogenic not provided 2013-11-26 criteria provided, single submitter clinical testing p.Glu217Gln (GAG>CAG): c.649 G>C in exon 8 of the MYH7 gene (NM_000257.2). The Glu217Gln variant in the MYH7 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Glu217Gln is a semi-conservative amino acid substitution as these residues share similar properties, but differ in size, charge, or other properties which may impact secondary structure. The Glu217 residue is highly conserved across species, and consequently, in silico analysis predicts Glu217Gln is damaging to the protein structure/function. Mutations in surrounding residues (Leu216Val, Gln219Glu) have been reported in association with HCM, supporting the functional importance of this region of the protein. Furthermore, the Glu217Gln 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, Glu217Gln is a good candidate for a disease-causing mutation. The variant is found in CARDIOMYOPATHY panel(s).

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