Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000278824 | SCV000340929 | uncertain significance | not provided | 2016-05-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000796621 | SCV000936141 | uncertain significance | Early infantile epileptic encephalopathy with suppression bursts | 2022-08-16 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 420 of the KCNQ2 protein (p.Pro420Leu). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individual(s) with early-onset epilepsy (PMID: 25959266). This variant is also known as p.Pro420Met. ClinVar contains an entry for this variant (Variation ID: 287222). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt KCNQ2 protein function. 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. |
Ambry Genetics | RCV002521968 | SCV003679134 | uncertain significance | Inborn genetic diseases | 2021-11-11 | criteria provided, single submitter | clinical testing | Milh, 2015 Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Gene |
RCV000678174 | SCV000484619 | not provided | Developmental and epileptic encephalopathy, 7 | no assertion provided | literature only | EE (epileptic encephalopathy) |