ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.2911G>A (p.Ala971Thr)

dbSNP: rs2144772485
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV001804220 SCV002051774 likely pathogenic Familial hypokalemia-hypomagnesemia 2021-12-01 criteria provided, single submitter clinical testing SLC12A3 c.2938G>A has been reported in multiple individuals with Gitelman syndrome. Functional studies suggest that this substitution alters SLC12A3 protein localization in cells. This variant (rs34803727) is rare (<0.1%) in a large population dataset (gnomAD: 17/282386 total alleles; 0.006%; no homozygotes) and has been reported in ClinVar (Variation ID: 586605). We consider SLC12A3 c.2938G>A to be likely pathogenic.

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