ClinVar Miner

Submissions for variant NM_000048.4(ASL):c.675C>G (p.Ile225Met)

dbSNP: rs1554327265
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000539996 SCV000631871 likely pathogenic Argininosuccinate lyase deficiency 2023-06-17 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 225 of the ASL protein (p.Ile225Met). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with highly specific biochemical findings suggestive of argininosuccinic aciduria (Invitae). ClinVar contains an entry for this variant (Variation ID: 459921). 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 ASL protein function. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Natera, Inc. RCV000539996 SCV002076026 uncertain significance Argininosuccinate lyase deficiency 2021-05-26 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.