ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.4887C>T (p.Gly1629=)

dbSNP: rs1057522726
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000422039 SCV000529127 likely benign not specified 2016-06-29 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 RCV001865361 SCV002317073 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2021-07-28 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with SPTAN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 387207). This variant is not present in population databases (ExAC no frequency). This sequence change affects codon 1629 of the SPTAN1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SPTAN1 protein.

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