ClinVar Miner

Submissions for variant NM_000212.3(ITGB3):c.2T>C (p.Met1Thr)

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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 RCV003222578 SCV003916006 uncertain significance Glanzmann thrombasthenia 2023-04-06 reviewed by expert panel curation The NM_000212.3(ITGB3):c.2T>C (p.Met1Thr) may cause a truncated or absent protein by altering the start codon of the coding sequence and is predicted to lead to the omission of a critical region of the protein. At least one variant (c.31T>C; p.Trp11Arg) has been classified Pathogenic upstream of the next potential in-frame start codon at residue 48 (PVS1_Moderate). Patient 1, of PMID: 31029159, is reported to have a clinical diagnosis of GT and is homozygous for this 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 for autosomal recessive Glanzmann Thrombasthenia based on the ACMG/AMP criteria applied, as specified by the ClinGen PD VCEP: PVS1_moderate, PM2_supporting, PM3_supporting (VCEP specifications version 2.1).

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