ClinVar Miner

Submissions for variant NM_000026.4(ADSL):c.253C>T (p.Arg85Ter) (rs1036185928)

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
GeneDx RCV000434653 SCV000515726 likely pathogenic not provided 2016-09-28 criteria provided, single submitter clinical testing An R85X variant that is likely pathogenic has been identified in the ADSL gene. The R85X variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The R85X nonsense variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.
Baylor Genetics RCV000679862 SCV000807227 pathogenic Adenylosuccinate lyase deficiency 2017-09-01 criteria provided, single submitter clinical testing This nonsense mutation was identified in trans with a splice mutation in a 2-year-old male with failure to thrive, short stature, problems with vomiting and hypoglycemia, postprandial hyperglycemia, and normal developmental milestones.
Invitae RCV000679862 SCV000961172 pathogenic Adenylosuccinate lyase deficiency 2018-08-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg85*) in the ADSL gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ADSL-related disease. ClinVar contains an entry for this variant (Variation ID: 379129). Loss-of-function variants in ADSL are known to be pathogenic (PMID: 10888601, 20177786). For these reasons, this variant has been classified as Pathogenic.

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.