ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.2198G>T (p.Gly733Val) (rs727504241)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000158518 SCV000208453 likely pathogenic not provided 2017-10-18 criteria provided, single submitter clinical testing p.Gly733Val (GGA>GTA): c.2198 G>T in exon 20 of the MYH7 gene (NM_000257.2). The Gly733Val variant in the MYH7 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Although Gly733Val results in a conservative amino acid substitution of one non-polar amino acid with another, this substitution occurs at a position that is highly conserved across species. In silico analysis predicts Gly733Val is probably damaging to the protein structure/function. Mutations at the same residue (Gly733Arg, Gly733Glu) and in nearby residues (Pro731Leu, Gln734Pro, Gln734Glu) have been reported in association with cardiomyopathy, further supporting the functional importance of this residue and this region of the protein. Furthermore, Gly733Val was not present in the 1000 Genomes database, and the NHLBI ESP Exome Variant Server reports Gly733Val was not observed in approximately 6500 samples from individuals of European and African American backgrounds, indicating it is not a common benign variant in these populations. In summary, Gly733Val is a good candidate for a disease-causing mutation. The variant is found in HCM panel(s).

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