ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.305T>G (p.Leu102Arg)

dbSNP: rs150793549
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001262226 SCV001440019 likely benign Developmental and epileptic encephalopathy, 5 2019-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001880037 SCV002227514 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2021-07-11 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with arginine at codon 102 of the SPTAN1 protein (p.Leu102Arg). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and arginine. This variant has not been reported in the literature in individuals with SPTAN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 982637). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain.

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