ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.1545-8C>A

gnomAD frequency: 0.01409  dbSNP: rs41361752
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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 RCV000277457 SCV004037414 benign Glanzmann thrombasthenia 2023-09-07 reviewed by expert panel curation After a comprehensive literature search of the intronic variant NM_000419.5(ITGA2B):c.1545-8C>A, no individuals with Glanzmann Thrombasthenia were reported with the variant. The variant has a high minor allele frequency of 0.04631 (1156/24960 alleles) in the African/African American population, which is higher than the ClinGen PD VCEP threshold (>0.0024), and therefore meets benign criterion (BA1). In silico predictor spliceAI revealed that the intronic mutation is not expected to impact splicing and a PhyloP score of 0.57 shows that the nucleotide position is not highly conserved (BP4, BP7). 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, BP4 and BP7 (PD VCEP specifications version 2.1).
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224426 SCV000280791 benign not provided 2015-08-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000247048 SCV000304083 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000277457 SCV000403375 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 RCV000277457 SCV001001800 benign Glanzmann thrombasthenia 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000224426 SCV005253403 benign not provided criteria provided, single submitter not provided

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