ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.2814del (p.Trp939fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003994921 SCV004813553 pathogenic Familial hypokalemia-hypomagnesemia 2024-02-15 criteria provided, single submitter clinical testing Variant summary: SLC12A3 c.2841delC (p.Trp948GlyfsX19) results in a premature termination codon, predicted to cause absence of the protein due to nonsense mediated decay, which is a commonly known mechanism for disease. The variant was absent in 251426 control chromosomes (gnomAD). To our knowledge, no occurrence of c.2841delC in individuals affected with Familial Hypokalemia-Hypomagnesemia and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as pathogenic.

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