ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.5222T>C (p.Ile1741Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV003313833 SCV004013007 uncertain significance von Willebrand disease type 1 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004741483 SCV005345408 uncertain significance VWF-related disorder 2024-03-20 no assertion criteria provided clinical testing The VWF c.5222T>C variant is predicted to result in the amino acid substitution p.Ile1741Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0039% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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