ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.1239dup (p.Leu414fs)

gnomAD frequency: 0.00001  dbSNP: rs770203987
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003738057 SCV004565046 pathogenic not provided 2023-04-28 criteria provided, single submitter clinical testing The VWF c.1239dup; p.Leu414AlafsTer15 variant (rs770203987) is reported in the heterozygous state in individuals with VWD type 1 and in the compound heterozygous state in individuals with VWD type 3 (Veyradier 2016). This variant is also reported in ClinVar (Variation ID: 1065243) and is only observed on two alleles in the Genome Aggregation Database, indicating it is not a common polymorphism. This variant causes a frameshift by inserting a single nucleotide, so it is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is considered to be pathogenic. References: Veyradier A et al. A Laboratory Phenotype/Genotype Correlation of 1167 French Patients From 670 Families With von Willebrand Disease: A New Epidemiologic Picture. Medicine (Baltimore). 2016 Mar;95(11):e3038. PMID: 26986123.
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico RCV001787161 SCV001572632 pathogenic von Willebrand disease type 3 2021-04-12 no assertion criteria provided clinical testing

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