ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.338_339delinsAT (p.Ser113Tyr) (rs1555874555)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522683 SCV000618333 likely pathogenic not provided 2017-04-27 criteria provided, single submitter clinical testing A variant that is likely pathogenic has been identified in the KCNQ2 gene. The c.338_339delCCinsAT variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.338_339delCCinsAT variant results in an in-frame deletion of a single Serine residue and insertion of a single Tyrosine residue at amino acid position 113, denoted S113Y. This substitution occurs at a position where amino acids with similar properties to Serine are tolerated across species; however, this variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. Additionally, in silico analysis predicts the S113Y variant is probably damaging to the protein structure/function. Results of parental testing indicate that the c.338_339delCCinsAT variant is apparently de novo. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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