ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.629G>C (p.Arg210Pro) (rs886041262)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000378190 SCV000330544 pathogenic not provided 2016-12-27 criteria provided, single submitter clinical testing The R210P variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. However, different missense variants at the same position (R210C, R210H) have been reported previously in association with KCNQ2-related disorders (Stenson et al., 2014). The R210P variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The R210P 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 conserved position predicted to be within the voltage-sensor transmembrane segment S4 of the protein, and multiple missense variants in nearby residues have been reported in the Human Gene Mutation Database in association with KCNQ2-related disorders (Stenson et al., 2014), supporting the functional importance of this region of the protein. Therefore, the R210P variant is considered to be a pathogenic variant
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000454413 SCV000540911 pathogenic Early infantile epileptic encephalopathy 7 2017-03-09 criteria provided, single submitter research

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