ClinVar Miner

Submissions for variant NM_054012.4(ASS1):c.349G>A (p.Gly117Ser) (rs770944877)

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
Counsyl RCV000671967 SCV000797014 likely pathogenic Citrullinemia type I 2018-01-09 criteria provided, single submitter clinical testing
Invitae RCV001376559 SCV001217718 pathogenic Citrullinemia 2020-08-02 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 117 of the ASS1 protein (p.Gly117Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine. This variant is present in population databases (rs770944877, ExAC 0.003%). This variant has been observed to be homozygous in several individuals affected with citrullinemia type I (PMID: 27287393, 16124451, 12815590). ClinVar contains an entry for this variant (Variation ID: 556029). This variant has been reported to affect ASS1 protein function (PMID: 27287393). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.
Natera, Inc. RCV000671967 SCV001453080 pathogenic Citrullinemia type I 2020-09-16 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.