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  2. onlinelibrary.wiley.com onlinelibrary.wiley.com
    A new case of platelet-type von Willebrand disease supports the recent findings of gain-of-function GP1BA variants outside the C-terminal disulphide loop enhances affinity for von Willebrand factor
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    1. krisBussey97 22 Nov 2024

      Disease: Platelet-type Von-willebrand Disorder (PT-VWD)

      Patient: 17 yo, male, adopted

      Variant: GP1BA NM_000173.7: c:580C>T p.(P.Leu194Phe), Heterozygous, gain-of-function

      Phenotypes: moderate bleeding phenotype, ISTH-BAT bleeding score of 3, recurrent epistaxis, easy bruising, mild thrombocytopenia

      Family: Adopted, no other family history mentioned, segregation studies not performed.

      Genetic analysis performed: found variant in GP1BA, results obtained by sanger sequencing.

      Variant present in gnomAD(rs368111193): low allele frequency, contradictory classifications

      Variant is not present in ClinVar, LOVD, or HGMD databases

      According to this paper, ACMG guidelines classified this variant as a VUS.

      This paper entered it into Clinvar (var ID 1693270)

      PT-VWD GP1BA variant VWF gain-of-function heterozygous mutations moderate bleeding recurrent epistaxis classified VUS
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    onlinelibrary.wiley.com/doi/10.1111/bjh.19025