ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.698_723del (p.Val233fs)

dbSNP: rs1554741638
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594129 SCV000704914 uncertain significance not provided 2017-01-31 criteria provided, single submitter clinical testing
Invitae RCV003753134 SCV004461963 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2023-05-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 499430). This variant has not been reported in the literature in individuals affected with SPTAN1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val233Glyfs*20) in the SPTAN1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SPTAN1 are known to be pathogenic (PMID: 31332438, 33206935).

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