ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.2602G>C (p.Ala868Pro)

dbSNP: rs774595024
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519443 SCV000621480 uncertain significance not provided 2017-10-06 criteria provided, single submitter clinical testing The A868P variant in the KCNQ2 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The A868P variant is not observed in large population cohorts (Lek et al., 2016). The A868P variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is not conserved and is predicted to be within the C-terminal cytoplasmic domain. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret A868P as a variant of uncertain significance.

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