ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1022A>G (p.Gln341Arg)

dbSNP: rs2081071796
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Total submissions: 2
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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 RCV001253730 SCV001429585 pathogenic Developmental and epileptic encephalopathy, 7 2018-12-19 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed).
Labcorp Genetics (formerly Invitae), Labcorp RCV002295337 SCV002596075 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2022-10-07 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. ClinVar contains an entry for this variant (Variation ID: 976423). 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). This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 341 of the KCNQ2 protein (p.Gln341Arg).

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