Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV000778379 | SCV000914598 | likely pathogenic | Hereditary von Willebrand disease | 2018-08-16 | criteria provided, single submitter | clinical testing | The VWF c.2303G>A (p.Arg768Gln) missense variant has been reported in four studies in which it is found in at least five probands with von Willebrand disease (VWD) including in one in a homozygous state, one in a compound heterozygous state, and at least three in a heterozygous state (Millar et al. 2008; Legendre et al. 2013; Kasatkar et al. 2014; Veyradier et al. 2016). Each heterozygous proband presented with a different von Willebrand disease type, either 1, 2, or 3, while the homozygote presented with type 3, and the compound heterozygote with type 2N (Millar et al. 2008; Legendre et al. 2013; Kasatkar et al. 2014; Veyradier et al. 2016). Control data are unavailable for this variant, which is reported at a frequency of 0.000265 in the East Asian population of the Genome Aggregation Database. Based on the evidence, the p.Arg768Gln variant is classified as likely pathogenic for von Willebrand disease. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. |