ClinVar Miner

Submissions for variant NM_000048.4(ASL):c.1128C>A (p.Tyr376Ter)

gnomAD frequency: 0.00001  dbSNP: rs764546937
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001959859 SCV002208264 pathogenic Argininosuccinate lyase deficiency 2024-02-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr376*) in the ASL gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ASL are known to be pathogenic (PMID: 2263616, 24166829). This variant is present in population databases (rs764546937, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with ASL-related conditions. ClinVar contains an entry for this variant (Variation ID: 1432406). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001959859 SCV004203127 likely pathogenic Argininosuccinate lyase deficiency 2023-09-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001959859 SCV005667428 likely pathogenic Argininosuccinate lyase deficiency 2024-06-05 criteria provided, single submitter 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.