ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.539_543del (p.Thr180fs)

gnomAD frequency: 0.00001  dbSNP: rs1246662762
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001217431 SCV001389270 pathogenic not provided 2023-10-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr180Asnfs*77) in the SLC12A3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC12A3 are known to be pathogenic (PMID: 20848653, 22009145, 25841442). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with Gitelman syndrome (PMID: 21415153). ClinVar contains an entry for this variant (Variation ID: 946546). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Natera, Inc. RCV001833890 SCV002089328 pathogenic Familial hypokalemia-hypomagnesemia 2020-05-29 no assertion criteria provided clinical testing

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