ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.817dup (p.Ala273fs)

dbSNP: rs2055082369
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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 RCV001221072 SCV001393095 pathogenic not provided 2024-01-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala273Glyfs*38) 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 premature translational stop signal has been observed in individuals with Gitelman syndrome (PMID: 19668106, 30596175). ClinVar contains an entry for this variant (Variation ID: 949583). For these reasons, this variant has been classified as Pathogenic.
Natera, Inc. RCV001828761 SCV002089336 pathogenic Familial hypokalemia-hypomagnesemia 2020-10-14 no assertion criteria provided clinical testing

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