ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.7810G>A (p.Val2604Met)

dbSNP: rs757554863
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 RCV001364479 SCV001560629 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2024-02-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV004952822 SCV005495805 uncertain significance Inborn genetic diseases 2024-09-08 criteria provided, single submitter clinical testing The c.7810G>A (p.V2604M) alteration is located in exon 26 (coding exon 24) of the SETX gene. This alteration results from a G to A substitution at nucleotide position 7810, causing the valine (V) at amino acid position 2604 to be replaced by a methionine (M). 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.