ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.1043G>A (p.Arg348Gln)

gnomAD frequency: 0.00001  dbSNP: rs1060499614
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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 RCV001225280 SCV001397549 uncertain significance Glanzmann thrombasthenia 2023-08-15 reviewed by expert panel curation The NM_000419.5(ITGA2B):c.1043G>A (p.Arg348Gln) missense variant is not currently reported in any individuals in the literature, to the best of our knowledge. It is at an extremely low frequency (below the <1/10,000 threshold) with an overall allele frequency from gnomADv2.1.1 of 0.000009297 and a MAF of 0.00007458 (2/26,818 alleles) in the South Asian population (PM2_supporting). REVEL predicts no significant impact of this variant with a score 0.118 (below the <0.25 threshold; BP4). In summary, this variant meets the criteria to be classified as variant of uncertain significance for autosomal recessive Glanzmann Thrombasthenia based on the ACMG/AMP criteria applied, as specified by the ClinGen PD VCEP: PM2_Supporting, BP4 (PD VCEP specifications version 2.1).
Division of Human Genetics, Children's Hospital of Philadelphia RCV000477932 SCV000536919 uncertain significance Platelet-type bleeding disorder 16; Glanzmann thrombasthenia 2016-08-06 no assertion criteria provided research

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