ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.1346G>A (p.Gly449Asp)

dbSNP: rs1598380253
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen RCV000003031 SCV001397477 likely pathogenic Glanzmann thrombasthenia 2023-09-07 reviewed by expert panel curation The NM_000419.5 (ITGA2B):c.1346G>A variant that results in the Gly449Asp amino acid change is reported in one homozygous Glanzmann thrombasthenia patient in the literature (PMID: 7508443; PM3_supporting). The patient had a severe bleeding phenotype, abnormal aggregometry and absent surface expression of GPIIb (PP4_moderate). It is absent in population databases, including gnomADv2.1.1 (PM2_supporting), and is predicted damaging by in-silico tools (REVEL score 0.895; PP3). Experimental evidence shows the variant results in lack of surface expression of the alphaIIb-beta3 complex (PMID: 7508443; PS3_moderate). In summary, based on the available evidence at this time, the Gly449Asp variant is classified as likely pathogenic for autosomal recessive Glanzmann thrombasthenia. GT-specific criteria applied: PM2_Supporting, PP3, PP4_Moderate, PS3_Moderate and PM3_Supporting.
OMIM RCV001580161 SCV000023189 pathogenic Glanzmann thrombasthenia 1 2021-04-13 no assertion criteria provided literature only

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