ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.671_672del (p.Ala224fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002588873 SCV002944992 pathogenic not provided 2023-09-12 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1905749). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with SLC12A3-related conditions. This sequence change creates a premature translational stop signal (p.Ala224Valfs*34) in the SLC12A3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC12A3 are known to be pathogenic (PMID: 20848653, 22009145, 25841442). This variant is not present in population databases (gnomAD no frequency).
Fulgent Genetics, Fulgent Genetics RCV005008633 SCV005639185 likely pathogenic Familial hypokalemia-hypomagnesemia 2024-04-12 criteria provided, single submitter clinical testing

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