ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.722G>A (p.Gly241Asp)

gnomAD frequency: 0.00001  dbSNP: rs1461226043
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 RCV001928943 SCV002200269 benign Ornithine carbamoyltransferase deficiency 2024-12-07 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001928943 SCV004824440 uncertain significance Ornithine carbamoyltransferase deficiency 2023-06-26 criteria provided, single submitter clinical testing This missense variant replaces glycine with aspartic acid at codon 241 of the OTC protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with OTC-related disorders in the literature. This variant has been identified in 1/183224 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Ambry Genetics RCV004656745 SCV005155181 uncertain significance Inborn genetic diseases 2024-05-09 criteria provided, single submitter clinical testing The c.722G>A (p.G241D) alteration is located in exon 8 (coding exon 8) of the OTC gene. This alteration results from a G to A substitution at nucleotide position 722, causing the glycine (G) at amino acid position 241 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.