ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.2141C>T (p.Ala714Val)

gnomAD frequency: 0.00011  dbSNP: rs369272221
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001120450 SCV001278934 uncertain significance Familial hypokalemia-hypomagnesemia 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Fulgent Genetics, Fulgent Genetics RCV001120450 SCV002814230 uncertain significance Familial hypokalemia-hypomagnesemia 2022-02-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002558194 SCV003448053 uncertain significance not provided 2022-06-20 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 714 of the SLC12A3 protein (p.Ala714Val). This variant is present in population databases (rs369272221, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with SLC12A3-related conditions. ClinVar contains an entry for this variant (Variation ID: 887609). 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. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002556584 SCV003698441 uncertain significance Inborn genetic diseases 2022-10-03 criteria provided, single submitter clinical testing The c.2141C>T (p.A714V) alteration is located in exon 17 (coding exon 17) of the SLC12A3 gene. This alteration results from a C to T substitution at nucleotide position 2141, causing the alanine (A) at amino acid position 714 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.