ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.3814T>C (p.Cys1272Arg)

dbSNP: rs61749372
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Total submissions: 4
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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, University of Sheffield RCV000086679 SCV000118883 not provided not provided no assertion provided not provided
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico RCV002243607 SCV002513352 pathogenic von Willebrand disease type 2 2022-04-26 no assertion criteria provided clinical testing

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