ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.2172G>A (p.Met724Ile)

dbSNP: rs2143447323
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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 RCV001803436 SCV002047588 likely pathogenic Glanzmann thrombasthenia 2021-09-03 reviewed by expert panel curation Missense variant NM_000419.5(ITGA2B):c.2172G>A (p.Met724Ile) has been identified in at least 2 probands, including GT6 of PMID: 29675921 meeting the criteria for PP4_strong criteria. Patient 440 of the GT database is homozygous for Met724Ile (PM3 _supporting). This variant is absent from gnomAD v2.1.1 (PM2_Supporting). In summary, this variant meets the criteria to be classified as Likely Pathogenic for autosomal recessive Glanzmann Thrombasthenia based on the ACMG/AMP criteria applied, as specified by the ClinGen PD VCEP: PM3_supporting, PM2_supporting, PP4_strong. (VCEP specifications version 2; date of approval 09/02/2021)

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