ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.2968-1G>A

dbSNP: rs2497535795
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV004018210 SCV004848772 likely pathogenic Hereditary von Willebrand disease 2022-08-26 criteria provided, single submitter clinical testing The c.2968-1G>A variant in VWF has not been reported in individuals with disease and was absent from large population studies. This variant occurs within the canonical splice site (+/- 1,2) and is predicted to cause altered splicing leading to an abnormal or absent protein. Loss of function of the VWF gene is associated with von Willebrand disease. In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely pathogenic for autosomal dominant von Willebrand disease. ACMG/AMP criteria applied: PM2_supporting, PVS1.

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