Submissions for variant NM_000552.5(VWF):c.4820T>A (p.Val1607Asp)

dbSNP: rs61750579

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000086803	SCV004221549	likely pathogenic	not provided	2023-09-13	criteria provided, single submitter	clinical testing	In the published literature, this variant has been reported in individuals with type 2A von Willebrand disease (VWD) (PMIDs: 2786201 (1989), 8456431 (1993), 22431572 (2012)). Experimental studies show this variant severely impairs VWF function (PMIDs: 1537829 (1992), 16322474 (2006), 22431572 (2012)). This variant has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is damaging. Based on the available information, this variant is classified as likely pathogenic.
OMIM	RCV000000310	SCV000020454	pathogenic	Von Willebrand disease type 2A	2010-05-01	no assertion criteria provided	literature only
Academic Unit of Haematology, University of Sheffield	RCV000086803	SCV000119009	not provided	not provided		no assertion provided	not provided
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico	RCV002243604	SCV002513358	pathogenic	von Willebrand disease type 2	2022-04-26	no assertion criteria provided	clinical testing