ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.1142C>T (p.Thr381Ile)

dbSNP: rs2048614738
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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 RCV001580225 SCV001809859 uncertain significance Glanzmann thrombasthenia 2024-02-20 reviewed by expert panel curation The ITGA2B missense variant NM_000419.5:c.1142C>T replaces the threonine residue with an isoleucine residue (p.Thr381Ile) and is absent from control population databases, including gonmADv4.0 (PM2_supporting). This variant has been observed in heterozygosity in an individual suspected to have Glanzmann's thrombasthenia (GT) (GT-71 in PMID: 30792900), however sufficient information to confirm if the individual's phenotype is specific for GT was not provided and a second ITGA2B variant was not identified. In summary, this variant is of uncertain significance and lacks sufficient evidence to be classified as pathogenic or benign for GT. GT-specific criteria applied: PM2_supporting.
Baylor Genetics RCV001332425 SCV001524753 uncertain significance Platelet-type bleeding disorder 16 2020-02-14 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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