ClinVar Miner

Submissions for variant NM_020708.5(SLC12A5):c.24C>A (p.Cys8Ter)

dbSNP: rs2084424489
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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 RCV001203211 SCV001374363 pathogenic Developmental and epileptic encephalopathy, 34 2022-10-17 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Cys8*) in the SLC12A5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC12A5 are known to be pathogenic (PMID: 26333769, 27436767). This variant has not been reported in the literature in individuals affected with SLC12A5-related conditions. ClinVar contains an entry for this variant (Variation ID: 934757). For these reasons, this variant has been classified as Pathogenic.

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