ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.812C>G (p.Ala271Gly)

dbSNP: rs2143481840
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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 RCV001803437 SCV002047589 likely pathogenic Glanzmann thrombasthenia 2021-09-03 reviewed by expert panel curation Missense variant NM_000419.5(ITGA2B):c.812C>G (p.Ala271Gly) has been identified in at least 2 probands, including GT6 of PMID: 29675921 meeting the criteria for PP4_strong criteria. Patient GT6 of PMID: 29675921 is compound heterozygous for Ala271Gly and Met724Ile (classified Likely Pathogenic) by the PD VCEP) and Patient 436 of the GT database is compound heterozygous for Ala271Gly and Tyr220Cys (classified Likely Pathogenic by the PD VCEP) (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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