ClinVar Miner

Submissions for variant NM_001005360.2(DNM2):c.1370A>G (p.Glu457Gly) (rs1555711301)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000710123 SCV000613147 uncertain significance not provided 2017-06-08 criteria provided, single submitter clinical testing
GeneDx RCV000710123 SCV000621132 uncertain significance not provided 2017-09-22 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the DNM2 gene. The E457G variant has notbeen published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge.The E457G variant is not observed in large population cohorts (Lek et al., 2016). The E547G variantis 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. 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 and/or function. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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