ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.3099G>T (p.Glu1033Asp)

gnomAD frequency: 0.00008  dbSNP: rs374682395
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703658 SCV000520599 likely benign not provided 2019-03-04 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28492532)
Invitae RCV000552921 SCV000633767 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2023-12-23 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 1033 of the SPTAN1 protein (p.Glu1033Asp). This variant is present in population databases (rs374682395, gnomAD 0.01%). 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: 381379). 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 RCV001808809 SCV002056552 likely benign Developmental and epileptic encephalopathy, 5 2021-07-15 criteria provided, single submitter clinical testing

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