ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.2522-18G>A

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Obstetrics And Gynecology, Genetic And Prenatal Diagnosis Center RCV003441151 SCV003925751 likely pathogenic Familial hypokalemia-hypomagnesemia criteria provided, single submitter clinical testing The SLC12A3 gene c.2549-18G>A is a splicing variant. This mutation was not found in the reference population's 1000 genome (1000G), with frequencies of 0.000050 and 4.13e-5 in the Human Exon Database (ExAC) and the Population Genome Mutation Frequency Database (gnomAD), respectively; The SpliceAI software predicts that this mutation may affect splicing. Pathogenic variant c.179C>T(p.Thr60Met) was detected at the trans position. The variant corresponds to a disease that matches the phenotype of this case; According to the ACMG guidelines, this mutation was identified as a suspected pathogenic variant (PM2S++PM3+PP3+PP4).
GeneDx RCV004779516 SCV005390384 uncertain significance not provided 2024-03-12 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge

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