Submissions for variant NM_001130438.3(SPTAN1):c.3194G>A (p.Arg1065His)

gnomAD frequency: 0.00001  dbSNP: rs199561983

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001060022	SCV001224682	uncertain significance	Early infantile epileptic encephalopathy with suppression bursts	2023-11-27	criteria provided, single submitter	clinical testing	This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1065 of the SPTAN1 protein (p.Arg1065His). 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 variant has not been reported in the literature in individuals affected with SPTAN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 854884). 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.
CeGaT Center for Human Genetics Tuebingen	RCV001092373	SCV001248843	uncertain significance	not provided	2019-08-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001809971	SCV002056754	uncertain significance	Developmental and epileptic encephalopathy, 5	2021-07-15	criteria provided, single submitter	clinical testing