ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.1528G>A (p.Glu510Lys)

dbSNP: rs769320860
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000310205 SCV000342392 uncertain significance not provided 2016-06-07 criteria provided, single submitter clinical testing
Invitae RCV001855204 SCV002295966 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2023-08-04 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 510 of the SPTAN1 protein (p.Glu510Lys). This variant is present in population databases (rs769320860, gnomAD no frequency). This missense change has been observed in individual(s) with temporal lobe epilepsy (PMID: 28199897). ClinVar contains an entry for this variant (Variation ID: 288315). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on SPTAN1 protein function. 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.
GeneDx RCV000310205 SCV002504371 likely benign not provided 2021-01-15 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.