ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.2005A>T (p.Asn669Tyr)

gnomAD frequency: 0.00001  dbSNP: rs143727702
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000537094 SCV000645235 likely benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2022-07-11 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000992930 SCV001145537 uncertain significance not provided 2018-12-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002420466 SCV002724261 uncertain significance Inborn genetic diseases 2023-11-28 criteria provided, single submitter clinical testing The c.2005A>T (p.N669Y) alteration is located in exon 10 (coding exon 8) of the SETX gene. This alteration results from a A to T substitution at nucleotide position 2005, causing the asparagine (N) at amino acid position 669 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004732940 SCV005360061 uncertain significance SETX-related disorder 2024-04-22 no assertion criteria provided clinical testing The SETX c.2005A>T variant is predicted to result in the amino acid substitution p.Asn669Tyr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0054% of alleles in individuals of European (Non-Finnish) 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.