ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.5223T>G (p.Ile1741Met)

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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 RCV004771781 SCV005382528 uncertain significance von Willebrand disease type 2 2023-05-20 criteria provided, single submitter clinical testing The missense variant c.5223T>G (p.Ile1741Met) in the VWF gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is reported with the allele frequency (0.0003%) in the gnomAD Exomes and absent in 1000 Genomes. The amino acid Isoleucine at position 1741 is changed to a Methionine changing protein sequence and it might alter its composition and physico-chemical properties. Computational evidence (Polyphen, SIFT and MutationTaster) predicts conflicting evidence on protein structure and function for this variant. For these reasons, this variant has been classified as Uncertain Significance.

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