ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.1049C>T (p.Ser350Leu)

gnomAD frequency: 0.00001  dbSNP: rs778585043
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000993001 SCV001145670 uncertain significance not provided 2019-05-01 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV001832309 SCV002580032 uncertain significance Familial hypokalemia-hypomagnesemia 2022-05-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000993001 SCV003443526 likely pathogenic not provided 2025-01-24 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 350 of the SLC12A3 protein (p.Ser350Leu). This variant is present in population databases (rs778585043, gnomAD 0.004%). This missense change has been observed in individuals with clinical features of Gitelman syndrome (PMID: 17329572, 30596175, 31672324). ClinVar contains an entry for this variant (Variation ID: 805468). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt SLC12A3 protein function with a positive predictive value of 95%. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV001832309 SCV005639225 likely pathogenic Familial hypokalemia-hypomagnesemia 2024-05-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832309 SCV002089342 uncertain significance Familial hypokalemia-hypomagnesemia 2020-08-19 no assertion criteria provided clinical testing

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