ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.6843_6848del (p.Ile2282_Leu2283del)

dbSNP: rs1589416130
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000803395 SCV000943264 likely pathogenic Early infantile epileptic encephalopathy with suppression bursts 2022-11-22 criteria provided, single submitter clinical testing 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: 648629). This variant has been observed in individual(s) with clinical features of early infantile epileptic encephalopathy (Invitae). 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.6843_6848del, results in the deletion of 2 amino acid(s) of the SPTAN1 protein (p.Ile2282_Leu2283del), but otherwise preserves the integrity of the reading frame. 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.

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