ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.1514G>A (p.Arg505His)

gnomAD frequency: 0.00004  dbSNP: rs139830291
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851704 SCV000899522 uncertain significance Hereditary von Willebrand disease 2019-02-01 criteria provided, single submitter research
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003117556 SCV003800156 uncertain significance not provided 2022-10-21 criteria provided, single submitter clinical testing The VWF c.1514G>A; p.Arg505His variant (rs139830291) is reported in the literature in an individual affected with an unspecified bleeding disorder (Downes 2019). This variant is also reported in ClinVar (Variation ID: 627007), and is found in the general population with an overall allele frequency of 0.0088% (22/249282 alleles) in the Genome Aggregation Database. The arginine at codon 505 is highly conserved, but computational analyses predict that this variant is neutral (REVEL: 0.102). Due to limited information, the clinical significance of this variant is uncertain at this time. References: Downes K et al. Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. Blood. 2019 Dec 5;134(23):2082-2091. PMID: 31064749.

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