ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.2660G>A (p.Arg887Gln)

gnomAD frequency: 0.00001  dbSNP: rs369360334
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000993004 SCV001145675 likely pathogenic not provided 2018-11-21 criteria provided, single submitter clinical testing The best available variant frequency is uninformative because it is below the disease allele frequency. Found in at least one symptomatic patient. Predicted to have a damaging effect on the protein. Occurs in three or more cases with a recessive pathogenic variant in the same gene.
Invitae RCV000993004 SCV001198562 pathogenic not provided 2023-12-21 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 896 of the SLC12A3 protein (p.Arg896Gln). This variant is present in population databases (rs369360334, gnomAD 0.008%). This missense change has been observed in individuals with Gitelman syndrome (PMID: 12772080, 18391953, 21415153, 22009145, 24830959, 27386324). This variant is also known as p.Arg887Gln. ClinVar contains an entry for this variant (Variation ID: 805469). 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 with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.
European Hospital Georges Pompidou Genetics Department, Assistance Publique - Hôpitaux de Paris AP-HP RCV001276382 SCV002513824 pathogenic Familial hypokalemia-hypomagnesemia 2022-04-27 criteria provided, single submitter clinical testing ACMG criteria used:PS4, PM1, PM2, PP3, PP5
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000993004 SCV002551702 likely pathogenic not provided 2023-08-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001276382 SCV002802978 likely pathogenic Familial hypokalemia-hypomagnesemia 2021-11-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276382 SCV001462629 likely pathogenic Familial hypokalemia-hypomagnesemia 2020-09-16 no assertion criteria provided clinical testing

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