ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.1882C>T (p.Arg628Ter)

dbSNP: rs1236922680
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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 RCV001225269 SCV001397535 pathogenic Glanzmann thrombasthenia 2020-09-06 reviewed by expert panel curation The NM_000419.3:c.1882C>T (p.Arg628Ter) nonsense variant generates a premature stop codon in exon 19 of 30, and is predicted to result in NMD. It has been seen in at least two probands with a phenotype highly specific to GT, including cosegregation in two affected siblings (PMID: 25728920). It occurs at an extremely low frequency of 0.00003983 in the gnomAD Latino population. In summary, based on the evidence available at this time, the variant is classified as pathogenic. GT-specific criteria applied: PVS1, PM2_supporting, PM3, PP1, PP4_strong.
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV003313995 SCV004014042 pathogenic Glanzmann thrombasthenia 1 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003426003 SCV004140679 pathogenic not provided 2022-08-01 criteria provided, single submitter clinical testing ITGA2B: PM3:Strong, PVS1:Strong, PM2:Supporting, PP1

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