ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.3232G>A (p.Glu1078Lys)

dbSNP: rs267607316
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000086643 SCV001771510 likely pathogenic not provided 2019-10-02 criteria provided, single submitter clinical testing Published functional studies demonstrate impaired E1078K mutant protein affinity activity with FVIII (Hilbert et al., 2004); Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 15613050, 30642920, 15213838, 24385719)
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003989318 SCV004807429 likely pathogenic von Willebrand disease type 1 2024-03-26 criteria provided, single submitter clinical testing
Academic Unit of Haematology, University of Sheffield RCV000086643 SCV000118847 not provided not provided no assertion provided not provided

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