Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics | 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. |
Labcorp Genetics |
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, |
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, |
RCV000993004 | SCV002551702 | likely pathogenic | not provided | 2023-08-15 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV001276382 | SCV002802978 | likely pathogenic | Familial hypokalemia-hypomagnesemia | 2021-11-22 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001276382 | SCV001462629 | likely pathogenic | Familial hypokalemia-hypomagnesemia | 2020-09-16 | no assertion criteria provided | clinical testing |