ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.438C>A (p.Cys146Ter)

gnomAD frequency: 0.00001  dbSNP: rs751409326
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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 RCV000807657 SCV000947722 pathogenic not provided 2024-01-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys146*) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with SLC12A3-related conditions. ClinVar contains an entry for this variant (Variation ID: 652156). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002501092 SCV002807606 likely pathogenic Familial hypokalemia-hypomagnesemia 2022-04-28 criteria provided, single submitter clinical testing

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