ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.836G>T (p.Gly279Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV003152943 SCV003841515 likely pathogenic Developmental and epileptic encephalopathy, 7 2023-02-23 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. The variant is located in a mutational hot spot and/or well-established functional domain in which established pathogenic variants have been reported. Missense changes are a common disease-causing mechanism. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.97; 3Cnet: 1.00). Different missense changes at the same codon (p.Gly279Asp, p.Gly279Cys, p.Gly279Ser) have been reported to be associated with KCNQ2-related disorder (ClinVar ID: VCV000369765, VCV001701799 / PMID: 25959266, 27734276). Therefore, this variant is classified as Likely pathogenic according to the recommendation of ACMG/AMP guideline.

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