ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.2965G>A (p.Ala989Thr) (rs78165611)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Platelet Disorders Variant Curation Expert Panel,ClinGen RCV001128134 SCV001397573 likely benign Glanzmann thrombasthenia 2020-06-16 reviewed by expert panel curation The ITGA2B missense variant c.2965G>A (p.Ala989Thr) has been observed in at least two probands with GT (PMIDs: 25539746, 15099289) however it was in cis with the pathogenic variant Val982Met. Expression in COS-7 cells did not reduce alphaIIbbeta3 surface expression, however functionality was not assessed. Computational evidence suggest no impact on the gene/gene product, with a REVEL score of 0.13. In summary, this variant meets criteria to be classified as Likely Benign for GT. GT-specific criteria applied: BP2 and BP4.
Illumina Clinical Services Laboratory,Illumina RCV001128134 SCV001287541 uncertain significance Glanzmann thrombasthenia 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Division of Human Genetics,Children's Hospital of Philadelphia RCV000477811 SCV000536912 uncertain significance Platelet-type bleeding disorder 16; Glanzmann thrombasthenia 2016-02-15 no assertion criteria provided research

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