ClinVar Miner

Submissions for variant NM_001875.5(CPS1):c.121G>T (p.Val41Phe)

gnomAD frequency: 0.00013  dbSNP: rs148708735
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000803314 SCV000943178 likely benign Congenital hyperammonemia, type I 2024-01-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV000803314 SCV003836136 uncertain significance Congenital hyperammonemia, type I 2022-03-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV003258979 SCV003986331 uncertain significance Inborn genetic diseases 2023-05-08 criteria provided, single submitter clinical testing The c.121G>T (p.V41F) alteration is located in exon 1 (coding exon 1) of the CPS1 gene. This alteration results from a G to T substitution at nucleotide position 121, causing the valine (V) at amino acid position 41 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000803314 SCV002076201 uncertain significance Congenital hyperammonemia, type I 2020-02-21 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.