ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.3079G>A (p.Ala1027Thr)

dbSNP: rs779759134
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001721229 SCV000243145 likely benign not provided 2021-03-18 criteria provided, single submitter clinical testing
Invitae RCV001852510 SCV002288636 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2023-07-10 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1027 of the SPTAN1 protein (p.Ala1027Thr). This variant is present in population databases (rs779759134, gnomAD 0.0009%). This missense change has been observed in individual(s) with SPTAN1-related condition (Invitae). ClinVar contains an entry for this variant (Variation ID: 207329). 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.

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