ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.4087C>T (p.Arg1363Ter)

gnomAD frequency: 0.00001  dbSNP: rs121434376
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
Ambry Genetics RCV000622386 SCV000742071 pathogenic Inborn genetic diseases 2016-12-16 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV002247241 SCV002520041 pathogenic not provided 2021-12-27 criteria provided, single submitter clinical testing PP1, PM2, PM3, PS3, PVS1
Genome-Nilou Lab RCV000002374 SCV003931399 pathogenic Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-02-08 criteria provided, single submitter clinical testing
OMIM RCV000002374 SCV000022532 pathogenic Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2004-03-01 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV004732525 SCV005367268 pathogenic SETX-related disorder 2024-05-27 no assertion criteria provided clinical testing The SETX c.4087C>T variant is predicted to result in premature protein termination (p.Arg1363*). This variant was reported in multiple unrelated individuals with ataxia-ocular apraxia 2 (Moreira et al. 2004. PubMed ID: 14770181; Table S1, Capalbo et al. 2019. PubMed ID: 31589614; da Costa et al. 2022. PubMed ID: 35426160; Baviera-Muñoz et al. 2022. PubMed ID: 36530930). This variant is reported in 0.0004% of alleles in individuals in gnomAD; and has been consistently classified as pathogenic in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/2284/). Nonsense variants in SETX are expected to be pathogenic. This variant is interpreted as pathogenic.

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.