ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.798G>A (p.Trp266Ter)

dbSNP: rs483352692
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen RCV002510782 SCV002820926 likely pathogenic Glanzmann thrombasthenia 2022-11-15 reviewed by expert panel curation The NM_000419.5(ITGA2B):c.798G>A (p.Trp266Ter) variant in exon 7 is a nonsense variant predicted to cause a premature stop codon in biologically-relevant-exon 7 and is predicted to lead to nonsense mediated decay in a gene in which loss-of-function is an established disease mechanism (PVS1). This variant is reported in ClinVar, but no phenotype data are available (SCV000120031.1, SCV000155134.1). This variant is also 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: PVS1, PM2_Supporting (VCEP specifications version 2.1).
Richard Lifton Laboratory, Yale University School of Medicine RCV000087169 SCV000120031 unknown not provided flagged submission not provided Converted during submission to Uncertain significance.
Richard Lifton Laboratory, Yale University School of Medicine RCV000087169 SCV000155134 unknown not provided no assertion criteria provided not provided Converted during submission to Uncertain significance.

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