Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
3billion | RCV002243607 | SCV004013655 | pathogenic | von Willebrand disease type 2 | criteria provided, single submitter | clinical testing | The variant is not observed in the gnomAD v2.1.1 dataset. Functional studies provide strong evidence of the variant having a damaging effect on the gene or gene product (PMID: 1419804). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.96; 3Cnet: 0.98). Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000000301 / PMID: 1419804, 20409624). Different missense changes at the same codon (p.Cys1272Gly, p.Cys1272Phe, p.Cys1272Ser, p.Cys1272Trp, p.Cys1272Tyr) have been reported to be associated with VWF related disorder (PMID: 14755371, 22102198, 22102201, 28533135, 9198195). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline. | |
OMIM | RCV000000328 | SCV000020472 | pathogenic | Von Willebrand disease type 2A | 2010-05-01 | no assertion criteria provided | literature only | |
Academic Unit of Haematology, |
RCV000086679 | SCV000118883 | not provided | not provided | no assertion provided | not provided | ||
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, |
RCV002243607 | SCV002513352 | pathogenic | von Willebrand disease type 2 | 2022-04-26 | no assertion criteria provided | clinical testing |