ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.2728-19T>C

gnomAD frequency: 0.00001  dbSNP: rs1350341374
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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 RCV001225254 SCV001397511 uncertain significance Glanzmann thrombasthenia 2023-06-01 reviewed by expert panel curation This intronic variant, NM_000419.5(ITGA2B):c.2728-19T>C (p.=) occurs at an extremely low frequency (<1/10,000), with an overall allele frequency in gnomAD of 0.00001377 and an MAF of 0.00003751 (2/53,326 alleles) in the non-Finnish European population (PM2_supporting). To our knowledge, it has not been reported in the literature. The variant is predicted by SpliceAI to have no significant splicing motif alteration detected (BP4) and the nucleotide is not highly conserved (PhyloP score 0.099; BP7). 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, and BP7 (PD VCEP specifications version 2.1).

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