ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.3155G>A (p.Arg1052Gln) (rs750020902)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519643 SCV000621257 uncertain significance not provided 2017-10-02 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the MYH6 gene. The R1052Q variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is also not observed at a significant frequency in large population cohorts (Lek et al., 2016). The R1052Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. Additionally, this substitution occurs at a position that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function. Nevertheless, this variant has not been observed in a significant number of affected individuals, and it lacks both segregation and functional studies which would further clarify its pathogenicity.

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