ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.1196_1202dup (p.Ala401_Ser402insTer)

dbSNP: rs751871500
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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 RCV001217403 SCV001389239 pathogenic not provided 2023-10-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser402*) 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 (rs751871500, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with Gitelman syndrome (PMID: 8900229, 30596175). This variant is also known as 1228insGTGATGC. ClinVar contains an entry for this variant (Variation ID: 946522). For these reasons, this variant has been classified as Pathogenic.
European Hospital Georges Pompidou Genetics Department, Assistance Publique - Hôpitaux de Paris AP-HP RCV001828726 SCV002513832 pathogenic Familial hypokalemia-hypomagnesemia 2022-04-27 criteria provided, single submitter clinical testing ACMG criteria used:PVS1, PM1, PM2, PM4, PP5
Fulgent Genetics, Fulgent Genetics RCV001828726 SCV002811546 pathogenic Familial hypokalemia-hypomagnesemia 2022-04-08 criteria provided, single submitter clinical testing
GeneDx RCV001217403 SCV005325250 pathogenic not provided 2024-03-14 criteria provided, single submitter clinical testing Identified in multiple unrelated patients with autosomal recessive Gitelman syndrome referred for genetic testing at GeneDx and in published literature (PMID: 8900229, 20675610); Nonsense 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: 20552229, 30596175, 8900229, 20675610, 22990302, 25422309, 31672324, 34746741)
Natera, Inc. RCV001828726 SCV002089346 pathogenic Familial hypokalemia-hypomagnesemia 2020-06-16 no assertion criteria provided clinical testing

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