Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003770378 | SCV004569192 | pathogenic | Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 | 2022-11-23 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. 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 expected to disrupt SCN2A protein function. ClinVar contains an entry for this variant (Variation ID: 984860). This missense change has been observed in individual(s) with SCN2A-related conditions (PMID: 23662938, 29655203). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 211 of the SCN2A protein (p.Gly211Asp). |
Genome |
RCV001265408 | SCV001443534 | likely pathogenic | Complex neurodevelopmental disorder | 2016-04-25 | no assertion criteria provided | provider interpretation | Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2016-04-25 and interpreted as Likely Pathogenic. Variant was initially reported on 2015-03-27 by GTR ID of laboratory name 26957. The reporting laboratory might also submit to ClinVar. |
Channelopathy- |
RCV001265408 | SCV004232400 | not provided | Complex neurodevelopmental disorder | no assertion provided | literature only |