Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute Of Human Genetics Munich, |
RCV000578391 | SCV000680270 | likely pathogenic | Seizures, benign familial neonatal, 1 | 2017-12-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001322734 | SCV001513621 | uncertain significance | Early infantile epileptic encephalopathy with suppression bursts | 2023-05-18 | criteria provided, single submitter | clinical testing | 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. 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: 488537). 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 arginine, which is basic and polar, with threonine, which is neutral and polar, at codon 541 of the KCNQ2 protein (p.Arg541Thr). |