ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.697A>G (p.Met233Val)

gnomAD frequency: 0.00001  dbSNP: rs387907469
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002283450 SCV002573245 uncertain significance Familial hypokalemia-hypomagnesemia 2022-09-01 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Same nucleotide change resulting in same amino acid change has been previously reported to be associated with SLC12A3-related disorder (PMID: 27216017). However, the evidence of pathogenicity is insufficient at this time. Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.
Martin Pollak Laboratory, Beth Israel Deaconess Medical Center RCV000054605 SCV000077295 unknown not provided no assertion criteria provided not provided Converted during submission to Uncertain significance.

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