Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000994920 | SCV000516734 | likely benign | not provided | 2021-04-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000555077 | SCV000633953 | uncertain significance | Early infantile epileptic encephalopathy with suppression bursts | 2024-01-24 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 593 of the SCN8A protein (p.Glu593Asp). This variant is present in population databases (rs760717246, gnomAD 0.005%). This missense change has been observed in individual(s) with clinical features of developmental and epileptic encephalopathy (Invitae). ClinVar contains an entry for this variant (Variation ID: 379563). 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 SCN8A protein function with a negative predictive value of 95%. 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 |
RCV000994920 | SCV001148737 | uncertain significance | not provided | 2018-05-01 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV001262687 | SCV001440641 | uncertain significance | Cognitive impairment with or without cerebellar ataxia | 2019-01-01 | criteria provided, single submitter | clinical testing |