ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.6798+1G>T

dbSNP: rs61750624
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851853 SCV000899870 likely pathogenic Hereditary von Willebrand disease 2019-02-01 criteria provided, single submitter research
Academic Unit of Haematology, University of Sheffield RCV000086861 SCV000119067 not provided not provided no assertion provided not provided
PreventionGenetics, part of Exact Sciences RCV004549534 SCV004764766 pathogenic VWF-related disorder 2024-02-08 no assertion criteria provided clinical testing The VWF c.6798+1G>T variant is predicted to disrupt the GT donor site and interfere with normal splicing. This variant has been reported in individuals with Von Willebrand disease 1 (James et al. 2007. PubMed ID: 17190853; Downes et al. 2019. PubMed ID: 31064749. Suppl3_SNV+INDEL). This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Variants that disrupt the consensus splice donor site in VWF are expected to be pathogenic. This variant is interpreted as pathogenic.

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