ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.3179del (p.Cys1060fs)

dbSNP: rs762105711
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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 RCV000600065 SCV000713168 likely pathogenic Hereditary von Willebrand disease 2017-06-15 criteria provided, single submitter clinical testing The p.Cys1060LeufsX59 variant (NM_000552.3 c.3179delG) in VWF has not been repor ted in individuals with von Willebrand disease (VWD). Data from large population studies is insufficient to assess the frequency of this variant. This variant i s predicted to cause a frameshift, which alters the protein?s amino acid sequenc e beginning at position 1060 and leads to a premature termination codon 59 amino acids downstream. This alteration is then predicted to lead to a truncated or a bsent protein. Loss of function of the VWF gene is associated with von Willebran d disease. In summary, although additional studies are required to fully establ ish a null effect on the protein, the p.Cys1060LeufsX59 variant is likely pathog enic.

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