ClinVar Miner

Submissions for variant NM_000212.3(ITGB3):c.58C>T (p.Leu20=)

gnomAD frequency: 0.00345  dbSNP: rs548495900
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
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen RCV000329008 SCV003915989 benign Glanzmann thrombasthenia 2023-03-21 reviewed by expert panel curation After a comprehensive literature search of the synonymous variant NM_000212.3(ITGB3):c.58C>T (p.Leu20=), no individuals with Glanzmann thrombasthenia were reported with the variant. This variant was observed by Ilumina as part of a predisposition screen in an ostensibly healthy population. Moreover, the variant has a minor allele frequency of 0.01438 (146/10154 alleles) in gnomAD, found in the African/African American population, which is considerably higher than the expected frequency of the disease (BA1). In silico predictor spliceAI revealed that the synonymous mutation is not expected to impact splicing. However, BP7 was not applied as the nucleotide position is conserved. In summary, this variant meets the criteria to be classified as Benign for autosomal recessive Glanzmann Thrombasthenia based on the ACMG/AMP criteria applied, as specified by the ClinGen PD VCEP: BA1 and BP4 (PD VCEP specifications version 2.1).
Illumina Laboratory Services, Illumina RCV000329008 SCV000403731 benign Glanzmann thrombasthenia 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000882902 SCV001026166 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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.