ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.131G>T (p.Gly44Val)

dbSNP: rs2048678209
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen RCV001225268 SCV001397534 pathogenic Glanzmann thrombasthenia 2020-09-08 reviewed by expert panel curation The NM_000419.5(ITGA2B):c.131G>T variant results in the Gly44Val missense change. It is absent in population databases and is predicted damaging by in silico tools (REVEL score of 0.797). A family of 3 compound heterozygous individuals is reported in the literature (PMID: 22394243, 25728920) with confirmation of the variants in trans. In summary, based on the evidence available at this time, the Gly44Val variant is classified Pathogenic. GT-specific criteria applied: PM2_Supporting, PM3, PP1_Moderate, PP4_Strong, PP3.

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