ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.1815G>A (p.Pro605=)

dbSNP: rs5912
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen RCV000356733 SCV002525919 benign Glanzmann thrombasthenia 2022-06-13 reviewed by expert panel curation The c.1815G>A variant is a synonymous (silent) variant (p.Pro605=) that is not predicted by SpliceAI to impact splicing (BP4). The highest population minor allele frequency in gnomAD v3.1.2 is 0.03782 (1565/41378 alleles) in African/African American population, which is higher than the ClinGen PD VCEP threshold (>0.0024) for BA1, and therefore meets this criterion (BA1). 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, BP7. (VCEP specifications version 2; date of approval 4/14/2022)
Illumina Laboratory Services, Illumina RCV000356733 SCV000403371 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 RCV000356733 SCV001001170 benign Glanzmann thrombasthenia 2024-01-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004709661 SCV005253402 benign not provided criteria provided, single submitter not provided

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