ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.187GTG[1] (p.Val64del)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004702062 SCV005201607 uncertain significance not provided 2023-09-27 criteria provided, single submitter clinical testing Observed with a nonsense variant, phase unknown, in a patient with features of Gitelman syndrome in the literature (Vargas-Poussou et al., 2011); In-frame deletion of 1 amino acid in a non-repeat region; In silico analysis supports that this variant does not alter protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 21415153)
Fulgent Genetics, Fulgent Genetics RCV005017217 SCV005639141 likely pathogenic Familial hypokalemia-hypomagnesemia 2024-04-10 criteria provided, single submitter clinical testing

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