ClinVar Miner

Submissions for variant NM_001005360.2(DNM2):c.1903G>A (p.Glu635Lys) (rs761198315)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523334 SCV000621216 uncertain significance not provided 2018-09-26 criteria provided, single submitter clinical testing The E635K variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The E635K variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). This 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, missense variants in nearby residues have not been reported in the Human Gene Mutation Database in association with DNM2-related disorders (Stenson et al., 2014).

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