ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.1674G>A (p.Trp558Ter)

dbSNP: rs2144723074
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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 RCV001970037 SCV002230896 pathogenic not provided 2024-01-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp558*) 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). This variant has not been reported in the literature in individuals affected with SLC12A3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1455492). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002507700 SCV002815693 likely pathogenic Familial hypokalemia-hypomagnesemia 2021-09-13 criteria provided, single submitter clinical testing

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