ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1783C>T (p.Arg595Trp)

dbSNP: rs1555851550
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001508893 SCV001715327 uncertain significance not provided 2019-06-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002523839 SCV003443965 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2024-05-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 595 of the KCNQ2 protein (p.Arg595Trp). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of benign familial neonatal-infantile seizures (PMID: 25046240). ClinVar contains an entry for this variant (Variation ID: 369811). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV001508893 SCV004012419 uncertain significance not provided 2024-07-27 criteria provided, single submitter clinical testing Reported as a paternally inherited variant in two siblings with infantile onset benign epilepsy (PMID: 25046240); This substitution is predicted to be within the C-terminal cytoplasmic domain.; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31589614, 25046240)
GeneReviews RCV000678199 SCV000484648 not provided Seizures, benign familial neonatal, 1 no assertion provided literature only BFIS (benign familial infantile seizures)

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