ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.43G>A (p.Glu15Lys)

gnomAD frequency: 0.00003  dbSNP: rs779592785
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 RCV001128305 SCV003915979 uncertain significance Glanzmann thrombasthenia 2023-02-02 reviewed by expert panel curation The c.43G>A variant in ITGA2B is a missense variant predicted to cause substitution of glutamic acid by lysine at amino acid 15. The highest population minor allele frequency in gnomAD v2.1.1 is 0.00003 (4/129086 alleles in the European (Non_Finnish) population), which is lower than the ClinGen PD VCEP threshold (<0.0001; PM2_Supporting). The computational predictor REVEL gives a score of 0.367, which is below the ClinGen PD VCEP PP3 threshold of >0.7 and does not predict a damaging effect on ITGA2B function. The computational splicing predictor SpliceAI indicated that the variant has no predicted impact on splicing. To our knowledge, this variant has not been reported in a Glanzmann thrombasthenia patient, and has only been observed by Illumina in a predisposition screen in an ostensibly healthy population. In summary, this variant meets the criteria to be classified as a variant of unknown significance - insufficient evidence for autosomal recessive Glanzmann Thrombasthenia based on the ACMG/AMP criteria applied, as specified by the ClinGen PD VCEP: PM2_Supporting. (VCEP specifications version 2; date of approval xx/xx/xxxx)
Illumina Laboratory Services, Illumina RCV001128305 SCV001287732 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled 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.