ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.4097C>T (p.Ala1366Val) (rs1085307922)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489332 SCV000577671 likely pathogenic not provided 2015-07-24 criteria provided, single submitter clinical testing The A1366V variant in the MYH6 gene has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. The A1366V 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 variant in these populations. The A1366V variant is a conservative amino acid substitution, which occurs in the coiled coil domain at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. A different missense variant in the same residue (A1366D) has been reported in the Human Gene Mutation Database in association with congenital heart defects (Stenson et al., 2014), supporting the functional importance of this region of the protein. The A1366V variant is a strong candidate for a disease-causing variant. However, the possibility it may be a rare benign variant cannot be excluded

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