ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1192_1193del (p.Lys398fs)

dbSNP: rs118192222
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001253446 SCV001429154 pathogenic Developmental and epileptic encephalopathy, 7 2016-06-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003588564 SCV004354111 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2023-07-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 21759). This variant is also known as 1369del2. This premature translational stop signal has been observed in individual(s) with KCNQ2-related conditions (PMID: 15030501). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys398Glufs*2) 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).
GeneReviews RCV000678055 SCV000041610 not provided Seizures, benign familial neonatal, 1 no assertion provided literature only BFNIS (benign familial neonatal-infantile seizures)

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