ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.3673C>T (p.Arg1225Trp) (rs569997507)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000718771 SCV000849635 likely benign Seizures 2017-05-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,Does not segregate with disease in family study (genes with incomplete penetrance)
Bioinformatics Core,Luxembourg Center for Systems Biomedicine RCV000656023 SCV000588299 pathogenic Rolandic epilepsy 2017-01-01 no assertion criteria provided case-control CAADphred>15
Genetic Services Laboratory, University of Chicago RCV000501169 SCV000597241 uncertain significance not specified 2015-11-05 criteria provided, single submitter clinical testing
Invitae RCV000636397 SCV000757836 uncertain significance Early infantile epileptic encephalopathy 2018-04-12 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 1225 of the SPTAN1 protein (p.Arg1225Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs569997507, ExAC 0.009%). This variant has not been reported in the literature in individuals with SPTAN1-related disease. ClinVar contains an entry for this variant (Variation ID: 433113). 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. 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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