ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.511A>G (p.Ile171Val)

gnomAD frequency: 0.00002  dbSNP: rs771906889
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502545 SCV000597242 uncertain significance not specified 2015-11-30 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197540 SCV001368319 uncertain significance Developmental and epileptic encephalopathy, 5 2019-12-24 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence favors the pathogenic nature of this variant, however the currently available data is insufficient to conclusively support its pathogenic nature. Thus this variant is classified as Uncertain significance - favor pathogenic. The following ACMG criteria were applied in classifying this variant: PP3.
Invitae RCV001323684 SCV001514609 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2022-07-09 criteria provided, single submitter clinical testing 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 436848). This variant has not been reported in the literature in individuals affected with SPTAN1-related conditions. This variant is present in population databases (rs771906889, gnomAD 0.004%). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 171 of the SPTAN1 protein (p.Ile171Val).
Genome-Nilou Lab RCV001197540 SCV002056737 uncertain significance Developmental and epileptic encephalopathy, 5 2021-07-15 criteria provided, single submitter clinical testing

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