ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.622A>G (p.Met208Val) (rs118192201)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001221931 SCV001394005 likely pathogenic Early infantile epileptic encephalopathy 2019-08-23 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 208 of the KCNQ2 protein (p.Met208Val). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and valine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with benign familial neonatal seizures or Ohtahara syndrome (PMID: 14534157, 29429461). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 21793). This variant has been reported to affect KCNQ2 protein function (PMID: 14534157). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
GeneReviews RCV000678086 SCV000041647 pathogenic Benign familial neonatal seizures 1 2016-03-31 no assertion criteria provided literature only BFNE (benign familial neonatal epilepsy). GS (generalized seizures) between 4 and 7 years.

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