ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.6478C>T (p.Arg2160Cys)

dbSNP: rs780696613
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000440777 SCV000529764 likely benign not specified 2016-10-17 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV002522382 SCV003521618 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2023-07-31 criteria provided, single submitter clinical testing This variant is present in population databases (rs780696613, gnomAD 0.02%). 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. 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. ClinVar contains an entry for this variant (Variation ID: 387660). This variant has not been reported in the literature in individuals affected with SPTAN1-related conditions. This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 2160 of the SPTAN1 protein (p.Arg2160Cys).

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