ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.780dup (p.Leu261fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004699716 SCV005203495 likely pathogenic von Willebrand disorder 2024-07-16 criteria provided, single submitter clinical testing Variant summary: VWF c.780dupG (p.Leu261AlafsX42) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 8e-06 in 251064 control chromosomes. To our knowledge, no occurrence of c.780dupG in individuals affected with Von Willebrand Disease and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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