Submissions for variant NM_000552.5(VWF):c.4007G>A (p.Arg1336Gln)

gnomAD frequency: 0.00003  dbSNP: rs886049741

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000354347	SCV000380602	uncertain significance	Hereditary von Willebrand disease	2016-06-14	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001001031	SCV001158143	uncertain significance	not specified	2019-01-25	criteria provided, single submitter	clinical testing	The VWF c.4007G>A; p.Arg1336Gln variant (rs886049741), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 310065). This variant is found on only four chromosomes in the Genome Aggregation Database, indicating it is not a common polymorphism. The arginine at codon 1336 is moderately conserved and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. However, due to limited information, the clinical significance of the p.Arg1336Gln variant is uncertain at this time.
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico	RCV001787097	SCV001572768	uncertain significance	von Willebrand disease type 3	2020-11-01	no assertion criteria provided	clinical testing	ClinGen Pathogenicity Calculator