ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.7982A>G (p.Lys2661Arg)

gnomAD frequency: 0.00034  dbSNP: rs199921065
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001044932 SCV001208756 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2024-01-18 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV002261259 SCV002541025 uncertain significance not provided 2022-01-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002409408 SCV002675783 likely benign Inborn genetic diseases 2022-07-14 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Revvity Omics, Revvity RCV002261259 SCV004237227 uncertain significance not provided 2023-03-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004545025 SCV004761755 uncertain significance SETX-related disorder 2024-08-20 no assertion criteria provided clinical testing The SETX c.7982A>G variant is predicted to result in the amino acid substitution p.Lys2661Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.060% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.