ClinVar Miner

Submissions for variant NM_001875.5(CPS1):c.697C>T (p.Arg233Cys)

gnomAD frequency: 0.00001  dbSNP: rs767905306
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 RCV000548691 SCV000659354 pathogenic Congenital hyperammonemia, type I 2023-09-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This missense change has been observed in individuals with carbamoyl phosphate synthetase I deficiency (PMID: 27150549, 33190319; Invitae). This variant is also known as R223C. ClinVar contains an entry for this variant (Variation ID: 477857). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CPS1 protein function. This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 233 of the CPS1 protein (p.Arg233Cys). This variant is present in population databases (rs767905306, gnomAD 0.003%).
Myriad Genetics, Inc. RCV000548691 SCV002060296 uncertain significance Congenital hyperammonemia, type I 2021-11-16 criteria provided, single submitter clinical testing NM_001875.4(CPS1):c.697C>T(R233C) is a missense variant classified as a variant of uncertain significance in the context of carbamoylphosphate synthetase I deficiency. R233C has been observed in cases with relevant disease (PMID: 33309754, 21120950, 27150549). Functional assessments of this variant are not available in the literature. R233C has been observed in population frequency databases (gnomAD: OTH 0.02%). In summary, there is insufficient evidence to classify NM_001875.4(CPS1):c.697C>T(R233C) as pathogenic or benign. Please note: this variant was assessed in the context of healthy population screening.
Natera, Inc. RCV000548691 SCV002076211 uncertain significance Congenital hyperammonemia, type I 2020-07-15 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.