ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.1479G>A (p.Met493Ile) (rs730880876)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000158808 SCV000208743 likely pathogenic not provided 2018-12-20 criteria provided, single submitter clinical testing The M493I variant in the MYH7 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Although M493I results in a conservative amino acid substitution of one non-polar residue for another, the M493 position is conserved across species. In silico analysis was inconsistent with regard to the effect this variant may have on the protein structure/function. Mutations affecting the same residue (M493L, M493V) and in nearby residues (F489I, E497D, Q498R) have been reported in association with HCM, further supporting the functional importance of this residue and this region of the protein. Furthermore, the M493I variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The variant is found in HCM panel(s).

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