ClinVar Miner

Submissions for variant NM_054012.4(ASS1):c.1003C>T (p.Arg335Cys)

gnomAD frequency: 0.00009  dbSNP: rs373514077
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002529816 SCV000754757 pathogenic Citrullinemia 2024-01-25 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 335 of the ASS1 protein (p.Arg335Cys). This variant is present in population databases (rs373514077, gnomAD 0.08%). This missense change has been observed in individual(s) with citrullinemia (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 528370). 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 ASS1 protein function with a positive predictive value of 80%. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000633519 SCV002789973 uncertain significance Citrullinemia type I 2021-10-05 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000633519 SCV003825142 uncertain significance Citrullinemia type I 2021-12-28 criteria provided, single submitter clinical testing
Baylor Genetics RCV000633519 SCV004202449 likely pathogenic Citrullinemia type I 2024-03-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV000633519 SCV001457310 uncertain significance Citrullinemia type I 2020-04-13 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.