Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Bioinformatics, |
RCV000059469 | SCV000221906 | pathogenic | Severe myoclonic epilepsy in infancy | 2014-12-20 | criteria provided, single submitter | research | |
Eurofins NTD LLC |
RCV000591357 | SCV000707161 | uncertain significance | not provided | 2017-05-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000798343 | SCV000937956 | pathogenic | Early infantile epileptic encephalopathy with suppression bursts | 2021-12-02 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 862 of the SCN1A protein (p.Arg862Gln). 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 Dravet syndrome (PMID: 20110217, 21248271). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 68593). 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. For these reasons, this variant has been classified as Pathogenic. |
Athena Diagnostics Inc | RCV000591357 | SCV001475469 | likely pathogenic | not provided | 2020-06-23 | criteria provided, single submitter | clinical testing | The frequency of this variant in the general population is consistent with pathogenicity. Predicted to have a damaging effect on the protein. Located in potentially critical domain of the protein. 2 de novo cases with parental identity not confirmed. |
Ce |
RCV000591357 | SCV001962306 | pathogenic | not provided | 2021-08-01 | criteria provided, single submitter | clinical testing | |
Uni |
RCV000059469 | SCV000090994 | not provided | Severe myoclonic epilepsy in infancy | no assertion provided | not provided |