ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.385C>G (p.Leu129Val)

dbSNP: rs1381622639
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Molecular Medicine, Children’s Hospital of Fudan University RCV001786545 SCV002028375 likely pathogenic Seizures, benign familial neonatal, 1; Developmental and epileptic encephalopathy, 7 2021-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001885202 SCV002257018 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2023-08-18 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 1326323). 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 leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 129 of the KCNQ2 protein (p.Leu129Val). 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.

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