ClinVar Miner

Submissions for variant NM_004975.4(KCNB1):c.605C>A (p.Ser202Tyr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV005252165 SCV005904064 uncertain significance Developmental and epileptic encephalopathy, 26 2023-10-25 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Predicted Consequence/Location: Missense changes are a common disease-causing mechanism. In silico tool predictions suggest damaging effect of the variant on gene or gene product [REVEL: 0.92 (>=0.6, sensitivity 0.68 and specificity 0.92); 3Cnet: 0.98 (>=0.6, sensitivity 0.72 and precision 0.9)]. Different missense changes at the same codon (p.Ser202Cys, p.Ser202Phe) have been reported to be associated with KCNB1-related disorder (ClinVar ID: VCV000932381 /PMID: 28806457). Therefore, this variant is classified as Likely pathogenic according to the recommendation of ACMG/AMP guideline.

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