ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.4931T>C (p.Ile1644Thr)

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
Ambry Genetics RCV002758219 SCV003577264 uncertain significance Inborn genetic diseases 2021-10-06 criteria provided, single submitter clinical testing The c.4931T>C (p.I1644T) alteration is located in exon 10 (coding exon 8) of the SETX gene. This alteration results from a T to C substitution at nucleotide position 4931, causing the isoleucine (I) at amino acid position 1644 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005227833 SCV005865332 likely benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2024-03-25 criteria provided, single submitter clinical testing

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.