ClinVar Miner

Submissions for variant NM_000212.2(ITGB3):c.362-1G>A (rs1567764299)

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 RCV000778501 SCV001397507 likely pathogenic Glanzmann thrombasthenia 2020-06-05 reviewed by expert panel curation The c.362-1G>A splice variant alters the acceptor site of intron 3 and is expected to result in the out of frame skipping of exon 4, the resulting frameshift would generate a stop codon in the next position and is predicted to cause NMD. This variant has not been reported in the literature, to our knowledge. It is absent from gnomAD, ExAC, 1000 Genomes, and ESP. In summary, this variant meets criteria to be classified as likely pathogenic for GT. GT-specific criteria applied: PM2_Supporting and PVS1.
Illumina Clinical Services Laboratory,Illumina RCV000778501 SCV000914772 uncertain significance Glanzmann thrombasthenia 2018-10-15 criteria provided, single submitter clinical testing This variant occurs in a canonical splice site (acceptor) and is therefore predicted to disrupt or distort the normal gene product. It was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018) and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score for this variant, it could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene and cDNA change. No publications were found based on this search. Due to the potential impact of splice acceptor variants and the lack of clarifying evidence, this variant is classified as a variant of uncertain significance but suspicious for pathogenicity for this disease.

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.