Submissions for variant NM_000552.5(VWF):c.6911G>A (p.Cys2304Tyr)

dbSNP: rs61750626

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory of Hematology, Radboud University Medical Center	RCV002264669	SCV002546351	pathogenic	von Willebrand disease type 1	2021-12-06	criteria provided, single submitter	research
GeneDx	RCV000086863	SCV005078421	likely pathogenic	not provided	2024-02-21	criteria provided, single submitter	clinical testing	Identified in unrelated patients with von Willebrand disease referred for genetic testing at GeneDx and in published literature (PMID: 16985174, 28971901, 23777763, 34351388); Published functional studies demonstrate C2304Y results in impaired protein secretion (PMID: 19566550); Not observed in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 21534937, 18315556, 18230755, 18344424, 17488667, 23777763, 28971901, 34351388, 16985174, 19566550)
Academic Unit of Haematology, University of Sheffield	RCV000086863	SCV000119069	not provided	not provided		no assertion provided	not provided
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico	RCV001787069	SCV001572729	likely pathogenic	von Willebrand disease type 3	2020-11-01	no assertion criteria provided	clinical testing	ClinGen Pathogenicity Calculator