ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.184G>A (p.Asp62Asn)

dbSNP: rs757490496
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001046841 SCV001210759 pathogenic not provided 2023-03-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 62 of the SLC12A3 protein (p.Asp62Asn). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with Gitelman syndrome (PMID: 8900229, 22934535; Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 844075). 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.
GeneDx RCV001046841 SCV001872756 uncertain significance not provided 2021-02-11 criteria provided, single submitter clinical testing Observed with a second SLC12A3 variant in unrelated patients with salt-losing tubulopathies in published literature, but it is not known whether the variants occurred on the same (in cis) or on different (in trans) chromosomes (Zhang et al., 2013); Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 22334612, 22934535, 8900229)
Genome-Nilou Lab RCV001807378 SCV002055279 likely pathogenic Familial hypokalemia-hypomagnesemia 2021-07-15 criteria provided, single submitter clinical testing

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