Submissions for variant NM_000552.5(VWF):c.5207del (p.Gly1736fs)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV003477410	SCV004221553	pathogenic	not provided	2022-11-09	criteria provided, single submitter	clinical testing	The VWF c.5207del (p.Gly1736Glufs*20) frameshift variant alters the translational reading frame of the VWF mRNA and causes the premature termination of VWF protein synthesis. The variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). In the published literature, the variant was reported in an individual affected with VWD (PMID: 26986123 (2016)). Based on the available information, this variant is classified as pathogenic.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV004587505	SCV005076602	pathogenic	von Willebrand disorder	2024-04-24	criteria provided, single submitter	clinical testing	Variant summary: VWF c.5207delG (p.Gly1736GlufsX20) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 251484 control chromosomes. c.5207delG has been reported in the literature in an individual affected with Von Willebrand Disease (Veyradier_2016). The following publication have been ascertained in the context of this evaluation (PMID: 26986123). ClinVar contains an entry for this variant (Variation ID: 2682118). Based on the evidence outlined above, the variant was classified as pathogenic.