Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001044833 | SCV001208653 | uncertain significance | Early infantile epileptic encephalopathy with suppression bursts | 2023-06-23 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs752551225, gnomAD 0.008%). 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: 842415). This variant has not been reported in the literature in individuals affected with KCNQ2-related conditions. This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 767 of the KCNQ2 protein (p.Arg767Gln). |
| Fulgent Genetics, |
RCV002479278 | SCV002786217 | uncertain significance | Seizures, benign familial neonatal, 1; Developmental and epileptic encephalopathy, 7 | 2021-10-06 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV004629415 | SCV005126923 | likely benign | Inborn genetic diseases | 2024-06-04 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |