ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.701A>G (p.Asn234Ser)

gnomAD frequency: 0.00009  dbSNP: rs752578570
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001719104 SCV000729536 likely benign not provided 2018-12-26 criteria provided, single submitter clinical testing
Invitae RCV001308068 SCV001497502 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2023-11-11 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 234 of the SPTAN1 protein (p.Asn234Ser). This variant is present in population databases (rs752578570, gnomAD 0.03%). 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: 516504). 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.
Genome-Nilou Lab RCV001809701 SCV002056525 uncertain significance Developmental and epileptic encephalopathy, 5 2021-07-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002360469 SCV002666556 likely benign Inborn genetic diseases 2017-06-29 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
New York Genome Center RCV001255075 SCV001431166 uncertain significance Seizure; Intellectual disability 2020-03-24 no assertion criteria provided clinical testing

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