ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.3062A>G (p.Gln1021Arg)

gnomAD frequency: 0.00001  dbSNP: rs762026283
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000713332 SCV000843929 uncertain significance not provided 2022-03-03 criteria provided, single submitter clinical testing
GeneDx RCV000713332 SCV005079680 uncertain significance not provided 2023-09-12 criteria provided, single submitter clinical testing Published functional studies suggest a damaging effect on plasma membrane localization (Glaudemans et al., 2012); Reported with a second variant in the SLC12A3 gene in a patient with clinical suspicion of Gitelman's syndrome; however, segregation information and additional clinical information were not provided (Glaudemans et al., 2012); In silico analysis supports that this missense variant does not alter protein structure/function, but splice predictors indicate that the variant may impact gene splicing; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 27872838, 22009145)
Natera, Inc. RCV001835938 SCV002089383 uncertain significance Familial hypokalemia-hypomagnesemia 2020-12-15 no assertion criteria provided clinical testing

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