ClinVar Miner

Submissions for variant NM_000301.5(PLG):c.2251G>A (p.Gly751Arg)

gnomAD frequency: 0.00001  dbSNP: rs121918033
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 RCV002513048 SCV003439520 uncertain significance not provided 2023-10-13 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 751 of the PLG protein (p.Gly751Arg). This variant is present in population databases (rs121918033, gnomAD 0.02%). This missense change has been observed in individual(s) with dysplasminogenemia (PMID: 9858247). This variant is also known as G732R. ClinVar contains an entry for this variant (Variation ID: 13580). 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 not expected to disrupt PLG protein function. 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.
PreventionGenetics, part of Exact Sciences RCV003415700 SCV004106603 uncertain significance PLG-related disorder 2022-11-17 criteria provided, single submitter clinical testing The PLG c.2251G>A variant is predicted to result in the amino acid substitution p.Gly751Arg. This variant has been reported in three individuals from a family with low plasminogen activity (Higuchi et al. 1998. PubMed ID: 9858247). This variant is reported in 0.0096% of alleles in individuals of Ashkenazi Jewish descent in gnomAD (http://gnomad.broadinstitute.org/variant/6-161173272-G-A). Although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
OMIM RCV000014548 SCV000034799 pathogenic Dysplasminogenemia 1998-12-01 no assertion criteria provided literature only

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.