ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.322C>A (p.Arg108=)

dbSNP: rs1598383383
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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 RCV003222170 SCV003915976 likely benign Glanzmann thrombasthenia 2024-03-07 reviewed by expert panel curation After a comprehensive literature search of the synonymous variant NM_000419.5(ITGA2B):c.322C>A (p.Arg108=), no individuals with Glanzmann thrombasthenia were reported with the variant. The variant is absent from gnomADv2.1.1 (PM2_supporting). In silico predictor spliceAI revealed that the synonymous mutation is not expected to impact splicing and a PhyloP score of -.065 shows that the nucleotide position is not highly conserved (BP4, BP7). In summary, this variant meets the criteria to be classified as likely benign for autosomal recessive Glanzmann Thrombasthenia based on the ACMG/AMP criteria applied, as specified by the ClinGen PD VCEP: PM2_supporting, BP4, BP7 (PD VCEP specifications version 2.1).
Labcorp Genetics (formerly Invitae), Labcorp RCV000906373 SCV001051005 likely benign not provided 2018-12-13 criteria provided, single submitter clinical testing

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