Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
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). |