ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.1989_1994del (p.Ile664_Glu665del)

gnomAD frequency: 0.00001  dbSNP: rs773195802
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 RCV001373070 SCV001569772 uncertain significance Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2024-01-03 criteria provided, single submitter clinical testing This variant, c.1989_1994del, results in the deletion of 2 amino acid(s) of the SETX protein (p.Ile664_Glu665del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs773195802, gnomAD 0.05%). This variant has been observed in individual(s) with amyotrophic lateral sclerosis (PMID: 32729724). This variant is also known as c.1989_1994delTATAGA, p.663_665delTIEinsT. ClinVar contains an entry for this variant (Variation ID: 1063249). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Fulgent Genetics, Fulgent Genetics RCV001373070 SCV002781588 uncertain significance Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2021-10-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003234057 SCV003931524 uncertain significance Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003234058 SCV003931525 uncertain significance Amyotrophic lateral sclerosis type 4 2023-02-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV004037553 SCV004948664 uncertain significance Inborn genetic diseases 2023-10-23 criteria provided, single submitter clinical testing Unlikely to be causative of SETX-related juvenile amyotrophic lateral sclerosis (AD) 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.