ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.2717_2720dup (p.His907fs)

gnomAD frequency: 0.00002  dbSNP: rs750735794
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001906059 SCV002162519 pathogenic not provided 2023-11-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His916Glnfs*7) 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 present in population databases (rs750735794, gnomAD 0.005%). This premature translational stop signal has been observed in individual(s) with Gitelman syndrome (PMID: 10988270). ClinVar contains an entry for this variant (Variation ID: 1397263). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002506984 SCV002814460 pathogenic Familial hypokalemia-hypomagnesemia 2021-12-16 criteria provided, single submitter clinical testing
GeneDx RCV001906059 SCV004035421 pathogenic not provided 2023-08-04 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 10988270)
Clinical Genetics Laboratory, Skane University Hospital Lund RCV001906059 SCV005197552 pathogenic not provided 2022-07-13 criteria provided, single submitter clinical testing

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