ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1411C>T (p.Gln471Ter)

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Total submissions: 2
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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 RCV001004668 SCV001164119 pathogenic Seizures, benign familial neonatal, 1 2016-08-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001860566 SCV002235487 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2022-07-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln471*) in the KCNQ2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in KCNQ2 are known to be pathogenic (PMID: 14534157, 23692823, 27779742). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 813737). This variant has not been reported in the literature in individuals affected with KCNQ2-related conditions. This variant is not present in population databases (gnomAD no frequency).

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