ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.4094T>C (p.Leu1365Pro)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003139297 SCV003823663 uncertain significance not provided 2019-07-09 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003139297 SCV004221531 uncertain significance not provided 2022-11-22 criteria provided, single submitter clinical testing The variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). In the published literature, the variant has been reported in individuals with type 1 VWD (PMID: 23340442 (2013)) and familial multiple coagulation factor deficiencies (FMCFD) (PMID: 33477601 (2021)). Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is damaging. Based on the available information, we are unable to determine the clinical significance of this variant.
PreventionGenetics, part of Exact Sciences RCV004725656 SCV005336299 likely pathogenic VWF-related disorder 2024-08-28 no assertion criteria provided clinical testing The VWF c.4094T>C variant is predicted to result in the amino acid substitution p.Leu1365Pro. This variant has been reported in an individual with von Willebrand disease type 1 (Flood et al. 2013. PubMed ID: 23340442) and in an individual with familial multiple coagulation factor deficiencies (Preisler et al. 2021. PubMed ID: 33477601). This variant has not been reported in a large population database, indicating this variant is rare. This variant was found to have occurred de novo in an individual clinically diagnosed with von Willebrand disease undergoing testing at PreventionGenetics (internal data). Additionally, a different missense change impacting the same amino acid (c.4094T>G, p.Leu1365Arg) has been reported in an individual with von Willebrand disease 2m (Veyradier et al. 2016. PubMed ID: 26986123). Taken together, the c.4094T>C (p.Leu1365Pro) variant is interpreted as likely pathogenic

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