ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.3856G>A (p.Gly1286Ser)

gnomAD frequency: 0.00001  dbSNP: rs769081903
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000798730 SCV000938360 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2019-09-09 criteria provided, single submitter clinical testing This variant is present in population databases (rs769081903, ExAC 0.001%). This sequence change replaces glycine with serine at codon 1286 of the SPTAN1 protein (p.Gly1286Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine. This variant has not been reported in the literature in individuals with SPTAN1-related disease. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0").

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