ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.3991C>G (p.His1331Asp) (rs1057517881)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000412792 SCV000490956 likely pathogenic not provided 2015-03-30 criteria provided, single submitter clinical testing The H1331D variant has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. The H1331D 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. The H1331Dvariant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure asthese residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position thatis conserved across species and in silico analysis predicts this variant is probably damaging to the proteinstructure/function. Furthermore, missense variants in nearby residues (N1327K, A1332T, R1337Q) havebeen reported in the Human Gene Mutation Database in association with cardiomyopathy (Stenson et al.,2014), supporting the functional importance of this region of the protein. Therefore, this variant is a strong candidate for a pathogenic variant, however the possibility that it is a benign variant cannot be excluded.

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