ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.212C>A (p.Ser71Ter)

dbSNP: rs62643619
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004771460 SCV005382326 likely pathogenic von Willebrand disease type 3 2023-05-20 criteria provided, single submitter clinical testing The observed stop gained c.212C>A(p.Ser71Ter) variant in VWF gene has been reported previously in homozygous state in individual(s) affected with Type 3 von Willebrand disease (vWD) (Ruan C., 2002). This variant is absent in gnomAD Exomes. This variant has been reported to the ClinVar database as interpretation not provided. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Loss of function variants have been previously reported to be disease causing. Computational evidence (MutationTaster - Disease causing automatic) predicts damaging effect on protein structure and function for this variant. For these reasons, this variant has been classified as Likely Pathogenic.
Academic Unit of Haematology, University of Sheffield RCV000086590 SCV000118794 not provided not provided no assertion provided not provided

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