ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.1945G>T (p.Val649Leu)

dbSNP: rs7207402
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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 RCV000391698 SCV001397529 benign Glanzmann thrombasthenia 2020-06-04 reviewed by expert panel curation The NM_000419.5:c.1945G>T (p.Val649Leu) variant occurs at an allele frequency of 0.01773 in the gnomAD African population and is predicted by REVEL score of 0.035 to have no impact. In summary, the variant is classified as benign. GT-specific criteria applied: BA1 and BP4.
Illumina Laboratory Services, Illumina RCV000391698 SCV000403369 benign Glanzmann thrombasthenia 2018-01-12 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.
Invitae RCV000391698 SCV001001704 benign Glanzmann thrombasthenia 2024-01-18 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820970 SCV002072036 benign not specified 2020-12-02 criteria provided, single submitter clinical testing

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