ClinVar Miner

Submissions for variant NM_000212.3(ITGB3):c.882T>C (p.Pro294=)

gnomAD frequency: 0.10166  dbSNP: rs5919
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen RCV000389557 SCV002820961 benign Glanzmann thrombasthenia 2022-12-01 reviewed by expert panel curation After a comprehensive literature search of the synonymous variant NM_000212.3(ITGB3):c.882T>C (p.Pro294=), no individuals with Glanzmann thrombasthenia were reported with the variant. Moreover, the variant has a minor allele frequency of 0.2463 (4912/19940 alleles) in gnomAD, found in the East Asian 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 at a nucleotide site that is not highly conserved. In conclusion the criteria BA1, BP4, and BP7 were applied to reach a classification of benign.
PreventionGenetics, part of Exact Sciences RCV000252166 SCV000303002 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000389557 SCV000403735 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 RCV001522059 SCV001731524 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001522059 SCV001861603 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001522059 SCV005249339 benign not provided criteria provided, single submitter not provided

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