ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.5051C>G (p.Pro1684Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003337960 SCV004048428 uncertain significance von Willebrand disease type 1 criteria provided, single submitter clinical testing The missense variant c.5051C>G (p.Pro1684Arg) in VWF gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.5051C>G (p.Pro1684Arg) variant is reported with the allele frequency (0.002%) in the gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant has not been reported to the ClinVar database. The amino acid Pro at position 1684 is changed to a Arg changing protein sequence and it might alter its composition and physico-chemical properties. In silico tools predict the variant to be tolerated. The residue is conserved across species. The amino acid change p.Pro1684Arg in VWF is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Variant of Uncertain Significance (VUS).

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