ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.1616_1620delinsGGCAC (p.Leu539_Gln540delinsArgHis)

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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 RCV003330343 SCV004037410 uncertain significance Glanzmann thrombasthenia 2023-09-07 reviewed by expert panel curation The NM_000419.5(ITGA2B):c.1616_1620delinsGGCAC (p.Leu539_Gln540delinsArgHis) indel variant results in the in-frame replacement of Leu539 and Gln540 with Arg and His respectively. This variant has been detected in at least 1 proband reported to have Glanzmann thrombasthenia (GT_43 in PMID: 30792900), who was homozygous for the variant (PM3_Supporting). This variant is absent from gnomAD v2.1.1 (PM2_Supporting). In summary, this variant meets the criteria to be classified as Uncertain significance - insufficient evidence for autosomal recessive Glanzmann Thrombasthenia based on the ACMG/AMP criteria applied, as specified by the ClinGen PD VCEP: PM3_Supporting and PM2_Supporting (VCEP specifications version 2).

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