ClinVar Miner

Submissions for variant NM_001875.5(CPS1):c.3472G>A (p.Val1158Ile)

gnomAD frequency: 0.00003  dbSNP: rs555151297
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
Invitae RCV001228848 SCV001401269 likely benign Congenital hyperammonemia, type I 2023-08-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002563151 SCV003593693 uncertain significance Inborn genetic diseases 2021-10-29 criteria provided, single submitter clinical testing The c.3472G>A (p.V1158I) alteration is located in exon 28 (coding exon 28) of the CPS1 gene. This alteration results from a G to A substitution at nucleotide position 3472, causing the valine (V) at amino acid position 1158 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001228848 SCV002076260 uncertain significance Congenital hyperammonemia, type I 2021-08-24 no assertion criteria provided 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.