ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.8052C>A (p.Tyr2684Ter)

dbSNP: rs1565806829
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000778371 SCV000914590 uncertain significance Hereditary von Willebrand disease 2017-05-17 criteria provided, single submitter clinical testing The VWF gene is the only gene in which variants are known to cause von Willebrand Disease. The VWF c.8052C>A (p.Tyr2684Ter) variant is a stop-gained variant predicted to result in premature termination of the protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the 1000 Genomes Project, the Exome Sequencing Project, the Exome Aggregation Consortium, or the Genome Aggregation Database. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. Based on the potential impact of stop-gained variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for von Willebrand Disease. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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