ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.807G>A (p.Trp269Ter)

dbSNP: rs118192208
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187877 SCV000241477 pathogenic not provided 2017-06-22 criteria provided, single submitter clinical testing The Trp269Stop nonsense variant in the KCNQ2 gene has been reported previously in association with benign familial neonatal seizures (Singh et al., 2003). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.
Invitae RCV001050636 SCV001214755 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2023-12-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp269*) 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). This variant is present in population databases (rs118192208, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with clinical features of benign familial neonatal convulsions (PMID: 14534157). ClinVar contains an entry for this variant (Variation ID: 21802). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV001267035 SCV001445216 pathogenic Inborn genetic diseases 2019-04-18 criteria provided, single submitter clinical testing
GeneReviews RCV000678095 SCV000041658 not provided Seizures, benign familial neonatal, 1 no assertion provided literature only BFNE (benign familial neonatal epilepsy). 1/7 late onset; 2/7 FS (febrile seizures)+GS (generalized seizures) in adulthood.

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