ClinVar Miner

Submissions for variant NM_177550.5(SLC13A5):c.15_19del (p.Ser6fs)

dbSNP: rs2544661194
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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 RCV003587880 SCV004325773 pathogenic Developmental and epileptic encephalopathy, 25 2023-10-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser6Cysfs*134) in the SLC13A5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC13A5 are known to be pathogenic (PMID: 24995870, 26384929). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SLC13A5-related conditions. For these reasons, this variant has been classified as Pathogenic.

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