ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.1446C>G (p.Ile482Met)

gnomAD frequency: 0.00023  dbSNP: rs569669757
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001576649 SCV001803879 uncertain significance not provided 2021-05-27 criteria provided, single submitter clinical testing Observed with the p.H1419Q variant and other variants in the VWF gene in patients with von Willebrand disease type 2M or type 2A in the published literature, but it is not known whether the variants occurred on the same (in cis) or on different (in trans) chromosomes in both cases (Fidalgo et al., 2016; Borras et al., 2017); Observed in the heterozygous state in two patients with von Willebrand disease type 1H in the published literature (Borras et al., 2017); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 26988807, 28971901)
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001576649 SCV005622778 uncertain significance not provided 2024-06-27 criteria provided, single submitter clinical testing The VWF c.1446C>G (p.Ile482Met) variant has been reported in the published literature in individuals with type 1H von Willebrand disease (VWD) (PMID: 28971901 (2017)). It has also been reported along with other VWF variants in individuals with Type 2M (PMID: 26988807 (2016)) and Type 2A von Willebrand disease (VWD) (PMID: 28971901 (2017)). The frequency of this variant in the general population, 0.00049 (17/34534 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. 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.
Fulgent Genetics, Fulgent Genetics RCV005005972 SCV005629990 uncertain significance von Willebrand disease type 1; von Willebrand disease type 3; von Willebrand disease type 2 2024-02-20 criteria provided, single submitter clinical testing

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