ClinVar Miner

Submissions for variant NM_000552.4(VWF):c.7988G>C (p.Arg2663Pro) (rs149834874)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413262 SCV000491223 uncertain significance not specified 2016-11-30 criteria provided, single submitter clinical testing The R2663P variant in the VWF gene has been reported previously in one individual with von Willebrand disease type 1 who was compound heterozygous with another missense variant in the VWF gene (Goodeve et al., 2007). Although not present in the homozygous state, the NHLBI ESP Exome Sequencing Project reports R2663P was observed in 17/8600 (0.2%) alleles from individuals of European background, indicating it may be a rare variant in this population. The R2663P variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved, and in silico analysis predicts this variant likely does not alter the protein structure/function. We interpret R2663P as a variant of uncertain significance.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851890 SCV000899939 likely pathogenic Abnormality of coagulation 2019-02-01 criteria provided, single submitter research
Illumina Clinical Services Laboratory,Illumina RCV000778372 SCV000914591 uncertain significance von Willebrand disorder 2018-12-04 criteria provided, single submitter clinical testing The VWF c.7988G>C (p.Arg2663Pro) missense variant has been reported in one study in which it is found in one individual with von Willebrand disease in a heterozygous state (Goodeve et al. 2008). The p.Arg2663Pro variant is absent from 100 controls, and is reported at a frequency of 0.002277 in the European (non-Finnish) population of the Genome Aggregation Database. Based on the limited evidence, the p.Arg2663Pro variant is classified as a variant of unknown significance but suspicious for pathogenicity for von Willebrand disease. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000986090 SCV001134924 uncertain significance not provided 2019-04-04 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000986090 SCV001148561 uncertain significance not provided 2018-05-01 criteria provided, single submitter clinical testing
Birmingham Platelet Group; University of Birmingham RCV001270575 SCV001450874 uncertain significance Abnormal bleeding; Thrombocytopenia 2020-05-01 no assertion criteria provided research

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