ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.2395C>T (p.His799Tyr)

gnomAD frequency: 0.00002  dbSNP: rs200459144
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000517993 SCV000615166 uncertain significance not specified 2016-09-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000551603 SCV000645239 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-08-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002448560 SCV002732420 uncertain significance Inborn genetic diseases 2022-03-11 criteria provided, single submitter clinical testing The c.2395C>T (p.H799Y) alteration is located in exon 10 (coding exon 8) of the SETX gene. This alteration results from a C to T substitution at nucleotide position 2395, causing the histidine (H) at amino acid position 799 to be replaced by a tyrosine (Y). 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.