ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.1930del (p.Gln644fs)

dbSNP: rs779215330
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001386502 SCV001586750 pathogenic not provided 2023-11-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln644Serfs*28) 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 (rs779215330, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with Gitelman syndrome (PMID: 15069170, 30596175). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as 1932delC. ClinVar contains an entry for this variant (Variation ID: 1073480). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001386502 SCV001981956 pathogenic not provided 2022-03-15 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; Not observed at a significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31672324, 17511264, 29871959, 15069170, 30596175, 16370563, Wan2021[preprint], 33348466)
Genome-Nilou Lab RCV001807397 SCV002055340 pathogenic Familial hypokalemia-hypomagnesemia 2021-07-15 criteria provided, single submitter clinical testing
European Hospital Georges Pompidou Genetics Department, Assistance Publique - Hôpitaux de Paris AP-HP RCV001807397 SCV002513837 pathogenic Familial hypokalemia-hypomagnesemia 2022-04-27 criteria provided, single submitter clinical testing ACMG criteria used:PVS1, PS4, PM1, PM2, PM3, PM4, PP5
Natera, Inc. RCV001807397 SCV002089361 pathogenic Familial hypokalemia-hypomagnesemia 2020-01-24 no assertion criteria provided clinical testing

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