ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.361C>T (p.Arg121Trp)

dbSNP: rs1376670407
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000762574 SCV000892907 uncertain significance not provided 2018-10-01 criteria provided, single submitter clinical testing
Invitae RCV002533914 SCV003505902 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2022-07-26 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 624368). 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. This variant has not been reported in the literature in individuals affected with SPTAN1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 121 of the SPTAN1 protein (p.Arg121Trp).

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