ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.758G>T (p.Gly253Val) (rs730880853)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000158763 SCV000208698 likely pathogenic not provided 2012-09-26 criteria provided, single submitter clinical testing p.Gly253Val (GGG>GTG):c.758 G>T in exon 9 of the MYH7 gene (NM_000257.2). The Gly253Val variant in the MYH7 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Although Gly253Val results in a conservativeamino acid substitution of one non-polar residue for another, the Gly253 residue is conserved across species. In silico analysis predicts Gly253Val is probably damaging to the protein structure/function. Mutations in nearby residues (His251Asn, Gly256Glu, Ala259Glu) have been reported in association with HCM, further supporting the functional importance of this region of the protein. Furthermore, the NHLBI ESP Exome Variant Server reports Gly253Val was not observed in approximately 6,400 samples from individuals of European and African American backgrounds, indicating it is not a common benign variant in these populations.In summary, while Gly253Val 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 HCM panel(s).
Ambry Genetics RCV000620876 SCV000735493 uncertain significance Cardiovascular phenotype 2016-08-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence

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