ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.4273A>T (p.Ile1425Phe)

dbSNP: rs61750083
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000086751 SCV001470127 likely pathogenic not provided 2021-08-04 criteria provided, single submitter clinical testing This variant has been reported in multiple individuals with type 2M von Willebrand disease (type 2M vWD) in the published literature (PMIDs: 9198195 (1997), 9473222 (1998), and 28971901 (2017)). In addition, functional studies have shown that this variant is associated with a normal VWF multimer pattern, but greatly reduced ristocetin-induced binding of von Willebrand factor to platelets and platelet aggregation (PMIDs: 9473222 (1998), 10845912 (2000), and 25185554 (2014)). Taking into account the available information, this variant is predicted to be likely pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002498470 SCV002811724 likely pathogenic von Willebrand disease type 1; von Willebrand disease type 3; von Willebrand disease type 2 2021-08-25 criteria provided, single submitter clinical testing
GeneDx RCV000086751 SCV005396371 likely pathogenic not provided 2024-05-06 criteria provided, single submitter clinical testing Reported in the heterozygous state in patients with von Willebrand disease type 2 in the published literature, but familial segregation information and additional clinical information were not included (PMID: 28971901, 9473222, 33556167, 9198195); Seen with a second variant in VWF in a patient with von Willebrand disease type 2M, but it is not known whether the variants occurred on the same (in cis) or on different (in trans) chromosomes (PMID: 25662333); Published functional studies demonstrate a damaging effect (PMID: 25185554); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); Also known as p.(I662F); This variant is associated with the following publications: (PMID: 10845912, 21289515, 20345715, 25662333, 14734152, 19665675, 12551832, 19506361, 9473222, 9198195, 33556167, 26986123, 26200876, 27889474, 17087728, 25185554, 25477497, 28971901)
Academic Unit of Haematology, University of Sheffield RCV000086751 SCV000118957 not provided not provided no assertion provided not provided
GeneReviews RCV002227446 SCV002507234 not provided Hereditary von Willebrand disease no assertion provided literature only

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.