ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.800G>C (p.Gly267Ala)

dbSNP: rs2048627164
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
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen RCV001125286 SCV001478496 uncertain significance Glanzmann thrombasthenia 2024-04-16 reviewed by expert panel curation The NM_000419.5(ITGA2B):c.800G>C (p.Gly267Ala) missense variant was observed by Illumina as part of a predisposition screen in an ostensibly healthy population but has not been reported in a GT patient. It occurs at the same residue as likely pathogenic variant Gly267Glu (ClinVar 953015; PM5_supporting). It is absent from population databases, including gnomADv4.0.0 (PM2_supporting) and predicted to have a deleterious effect (REVEL score 0.756; PP3).In summary there is insufficient evidence resulting in a classification of Uncertain Significance. GT-specific criteria applied: PM2_Supporting, PM5_Supporting, and PP3.
Illumina Laboratory Services, Illumina RCV001125286 SCV001284334 uncertain significance Glanzmann thrombasthenia 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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.