Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000762355 | SCV000241506 | likely benign | not provided | 2020-08-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000636418 | SCV000757857 | uncertain significance | Early infantile epileptic encephalopathy with suppression bursts | 2023-11-24 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 502 of the KCNQ2 protein (p.Ala502Val). This variant is present in population databases (rs375264483, gnomAD 0.007%). This missense change has been observed in individual(s) with clinical features of benign familial neonatal-infantile seizures (Invitae). ClinVar contains an entry for this variant (Variation ID: 205906). 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 tolerated. Experimental studies have shown that this missense change does not substantially affect KCNQ2 function (PMID: 35104249). 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. |
Ce |
RCV000762355 | SCV000892663 | uncertain significance | not provided | 2019-09-01 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000765494 | SCV000896790 | uncertain significance | Seizures, benign familial neonatal, 1; Developmental and epileptic encephalopathy, 7 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000762355 | SCV003811978 | uncertain significance | not provided | 2019-10-09 | criteria provided, single submitter | clinical testing | |
Channelopathy- |
RCV003315321 | SCV004015071 | not provided | Complex neurodevelopmental disorder | no assertion provided | literature only |