ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.3299A>T (p.Gln1100Leu) (rs775652096)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485702 SCV000574168 uncertain significance not provided 2017-03-14 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the MYH6 gene. The Q1100L variant has been published in at least one patient with HCM (Lopes et al., 2013); however, additional clinical information was not provided. This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The Q1100L variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. 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. However, this variant lacks observation in a significant number of affected individuals, segregation data, and functional evidence, which would further clarify its pathogenicity.

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