Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000691137 | SCV000818880 | uncertain significance | Early infantile epileptic encephalopathy with suppression bursts | 2023-08-14 | 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: 570302). This variant has not been reported in the literature in individuals affected with KCNQ2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0008%). This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 600 of the KCNQ2 protein (p.Thr600Met). |