ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.6798+2T>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV002466792 SCV002761449 pathogenic von Willebrand disease type 3 2020-07-20 criteria provided, single submitter clinical testing The VWF c.6798+2T>A variant is classified as Pathogenic (PVS1, PM2, PP4) The VWF c.6798+2T>A variant is located in a splice donor region. Computational predictions support a deleterious effect on splicing and a likely disruption of the protein reading frame and non-sense mediated decay of the resulting protein product (PVS1). VWF c.6798+2T>A is located in intron 38. This variant is absent from population databases (PM2). The clinical features of this case are highly specific for the VWF, the family history is consistent with the mode of inheritance of this condition and this patient has a well-defined syndrome with little overlap with other clinical presentations (PP4). The variant has been reported in the HGMD database: 2020.2 not reported. It has not been reported in dbSNP or ClinVar.

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