ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.1077C>G (p.Asn359Lys)

dbSNP: rs181865675
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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 RCV001213207 SCV001384828 pathogenic not provided 2023-05-22 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 359 of the SLC12A3 protein (p.Asn359Lys). For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SLC12A3 protein function. ClinVar contains an entry for this variant (Variation ID: 943091). This missense change has been observed in individual(s) with Gitelman syndrome (PMID: 19207868, 26825084, 30413979, 30596175). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency).
Natera, Inc. RCV001833866 SCV002089343 pathogenic Familial hypokalemia-hypomagnesemia 2021-02-23 no assertion criteria provided clinical testing

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