ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.1005_1013del (p.His335_Leu338delinsGln)

dbSNP: rs1598381654
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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 RCV000851627 SCV005061691 uncertain significance Glanzmann thrombasthenia 2024-05-02 reviewed by expert panel curation The c.1005_1013del variant is predicted to cause a change in the length of the protein due to an in-frame deletion of 4 amino acids and insertion of 1 amino acid in a non-repeat region (p.His335_Leu338delinsGln) (PM4). There has been one case of Glanzmann Thrombasthenia associated with this variant reported in the literature. GT patient TGP0218 (PMID: 31064749) is homozygous for this variant 0.5pt (PM3_supporting). Information about the phenotypes of this patient were insufficient to meet group criteria (PP4 not met). This variant was not present in the GT database or the HGMD database. This variant is absent from gnomAD v4.0.0 (PM2_Supporting). In summary, this variant meets the criteria to be classified as variant of unknown significance due to insufficient evidence for autosomal recessive Glanzmann Thrombasthenia based on the ACMG/AMP criteria applied, as specified by the ClinGen PD VCEP: PM4, PM2_supporting, PM3_supporting. (VCEP specifications version 2; date of approval 05/02/2024)
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851627 SCV000899395 likely pathogenic Glanzmann thrombasthenia 2019-02-01 criteria provided, single submitter research

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