Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000487743 | SCV000575246 | uncertain significance | not provided | 2016-09-01 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001328670 | SCV001519838 | likely pathogenic | Generalized epilepsy with febrile seizures plus, type 2 | 2020-01-13 | criteria provided, single submitter | clinical testing | This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |
Invitae | RCV001385358 | SCV001585191 | pathogenic | Early infantile epileptic encephalopathy with suppression bursts | 2020-11-14 | 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 SCN1A protein function. This variant has been observed in individual(s) with Dravet syndrome (PMID: 30619928). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 425224). This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with valine at codon 1510 of the SCN1A protein (p.Ala1510Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. |