ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.751del (p.Ala251fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003134019 SCV003816319 likely pathogenic Familial hypokalemia-hypomagnesemia 2022-07-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003669354 SCV004397099 pathogenic not provided 2022-10-31 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SLC12A3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala251Hisfs*51) 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). For these reasons, this variant has been classified as Pathogenic.

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