ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.3845T>C (p.Leu1282Pro)

dbSNP: rs61749378
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Hematology, Radboud University Medical Center RCV002264858 SCV002546293 likely pathogenic von Willebrand disease type 2 2021-01-12 criteria provided, single submitter research
Genetics and Molecular Pathology, SA Pathology RCV003447622 SCV004175626 likely pathogenic Von Willebrand disease type 2B 2022-04-22 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003738173 SCV004562615 uncertain significance not provided 2023-10-02 criteria provided, single submitter clinical testing The VWF c.3845T>C; p.Leu1282Pro variant is reported in the literature in two individuals affected with von Willebrand Disease type 2M and type 2A (Atiq 2022, Maas 2022). This variant is reported in ClinVar (Variation ID: 1695355), and is absent from the Genome Aggregation Database, indicating it is not a common polymorphism. Computational analyses predict that this variant is deleterious (REVEL: 0.91). Due to limited information, the clinical significance of this variant is uncertain at this time. References: Atiq F et al. Importance of Genotyping in von Willebrand Disease to Elucidate Pathogenic Mechanisms and Variability in Phenotype. Hemasphere. 2022 May 11;6(6):e718. PMID: 35747851. Maas DPMSM et al. Von Willebrand disease type 2M: Correlation between genotype and phenotype. J Thromb Haemost. 2022 Feb;20(2):316-327. PMID: 34758185.

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