ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.2585G>A (p.Arg862Gln)

dbSNP: rs121918785
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Bioinformatics, Peking University RCV000059469 SCV000221906 pathogenic Severe myoclonic epilepsy in infancy 2014-12-20 criteria provided, single submitter research
Eurofins NTD LLC (GA) 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.
CeGaT Center for Human Genetics Tuebingen RCV000591357 SCV001962306 pathogenic not provided 2021-08-01 criteria provided, single submitter clinical testing
UniProtKB/Swiss-Prot RCV000059469 SCV000090994 not provided Severe myoclonic epilepsy in infancy no assertion provided not provided

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