ClinVar Miner

Submissions for variant NM_020708.5(SLC12A5):c.962del (p.Phe321fs)

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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 RCV002908357 SCV003250840 pathogenic Developmental and epileptic encephalopathy, 34 2021-12-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe321Serfs*43) 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 is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SLC12A5-related conditions. For these reasons, this variant has been classified as Pathogenic.

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