ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.2278C>T (p.Arg760Cys)

gnomAD frequency: 0.00001  dbSNP: rs1449467609
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000636301 SCV000757740 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2023-09-17 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 760 of the KCNQ2 protein (p.Arg760Cys). This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with KCNQ2-related conditions. ClinVar contains an entry for this variant (Variation ID: 530437). 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.
Fulgent Genetics, Fulgent Genetics RCV000765491 SCV000896787 uncertain significance Seizures, benign familial neonatal, 1; Developmental and epileptic encephalopathy, 7 2018-10-31 criteria provided, single submitter clinical testing

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