ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.22G>A (p.Gly8Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV002481154 SCV002774754 uncertain significance not provided 2021-06-17 criteria provided, single submitter clinical testing
Johns Hopkins Genomics, Johns Hopkins University RCV003485788 SCV004239054 uncertain significance von Willebrand disease type 1 2023-10-31 criteria provided, single submitter clinical testing This VWF missense variant has not been reported in the literature, to our knowledge. It (rs201015235) is rare (<0.1%) in a large population dataset (gnomAD v3.1.2: 10/152174 total alleles; 0.01%; no homozygotes), and has been reported in ClinVar (Variation ID 1809579). Two bioinformatic tools queried predict that this substitution would be tolerated, but these algorithms have low specificity, especially for predicting gain of function or dominant negative variants. The glycine residue at this position is evolutionarily conserved across very few of the species assessed. We consider the clinical significance of c.22G>A in VWF to be uncertain at this time.

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