ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.421G>A (p.Gly141Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Diabetes and Endocrinology, Second Affiliated Hospital of Dalian Medical University RCV004577936 SCV005061484 likely pathogenic Familial hypokalemia-hypomagnesemia 2022-06-29 criteria provided, single submitter clinical testing The proband presented with a compound heterozygous mutation including M1: c.421G>A.G141R, M2: c.509T>A .L170Q, and M3: c.704C>A.T235K. The M1: Gly141Arg variant and M3:Thr235Lys in the Gitelman Syndrome gene was identified in a family lineage and has not been previously reported. Genetic sequencing confirmed that mutations M1 and M2 were inherited from the father, who also has Gitelman Syndrome but exhibits mild hypokalemia symptoms. The M3 mutation was inherited from the mother, who is currently asymptomatic. In summary, the Gly141Arg variant meets our criteria to be classified as pathogenic, and the Thr235Lys variant is likely to be pathgenic.

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