ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.2099T>C (p.Leu700Pro)

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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 RCV004527202 SCV005039902 pathogenic Familial hypokalemia-hypomagnesemia 2024-03-15 criteria provided, single submitter clinical testing Variant summary: SLC12A3 c.2099T>C (p.Leu700Pro) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251294 control chromosomes (gnomAD). c.2099T>C has been reported in the literature in multiple individuals affected with Familial Hypokalemia-Hypomagnesemia (e.g. Lee_2016, Zhang_2016, Zhong_2019, Fujimura_2019). These data indicate that the variant is very likely to be associated with disease. The following publications have been ascertained in the context of this evaluation (PMID: 26770037, 27783806, 30413979, 30596175). 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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