ClinVar Miner

Submissions for variant NM_015599.3(PGM3):c.1513C>T (p.Arg505Ter)

dbSNP: rs1786845541
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 RCV001322581 SCV001513458 uncertain significance Immunodeficiency 23 2022-11-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg533*) in the PGM3 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 38 amino acid(s) of the PGM3 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PGM3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1022643). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
New York Genome Center RCV001322581 SCV002099177 likely pathogenic Immunodeficiency 23 2021-03-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002545113 SCV003556597 uncertain significance Inborn genetic diseases 2021-08-10 criteria provided, single submitter clinical testing Not expected to trigger nonsense-mediated mRNA decay 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.