ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.6592_6597dup (p.Leu2198_Gln2199dup)

dbSNP: rs1589393179
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Laboratory - UDIAT Centre Diagnòstic, Hospital Universitari Parc Tauli 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.

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