Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetics Laboratory - |
RCV000824688 | SCV000930701 | likely pathogenic | Developmental and epileptic encephalopathy, 5 | 2019-07-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003753158 | SCV004427420 | likely pathogenic | Early infantile epileptic encephalopathy with suppression bursts | 2023-01-12 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 666262). This variant has been observed in individual(s) with SPTAN1-related conditions (PMID: 34653234). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This variant, c.6592_6597dup, results in the insertion of 2 amino acid(s) of the SPTAN1 protein (p.Leu2198_Gln2199dup), but otherwise preserves the integrity of the reading frame. |