ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.3341T>C (p.Ile1114Thr)

gnomAD frequency: 0.00004  dbSNP: rs760535401
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000688257 SCV000815862 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2024-01-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002325367 SCV002609094 uncertain significance Inborn genetic diseases 2022-03-20 criteria provided, single submitter clinical testing The p.I1114T variant (also known as c.3341T>C), located in coding exon 8 of the SETX gene, results from a T to C substitution at nucleotide position 3341. The isoleucine at codon 1114 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the supporting evidence, this variant is unlikely to be causative of juvenile amyotrophic lateral sclerosis 4 (ALS4); however, its contribution to the development of spinocerebellar ataxia with axonal neuropathy 2 (SCAN2) is uncertain.

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.