ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.926C>T (p.Ala309Val)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV000678152 SCV001164155 pathogenic Developmental and epileptic encephalopathy, 7 2017-08-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001381684 SCV001580177 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2020-03-10 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with valine at codon 309 of the KCNQ2 protein (p.Ala309Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant has been observed in individual(s) with KCNQ2-related conditions (PMID: 23692823, 29314763, 30776697). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 369772). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. For these reasons, this variant has been classified as Pathogenic.
GeneReviews RCV000678152 SCV000484596 not provided Developmental and epileptic encephalopathy, 7 no assertion provided literature only EE (epileptic encephalopathy)

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