ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.5673C>G (p.Asp1891Glu)

dbSNP: rs369450995
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001766997 SCV001989988 uncertain significance not provided 2022-08-12 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002496091 SCV002793578 uncertain significance von Willebrand disease type 1; von Willebrand disease type 3; von Willebrand disease type 2 2021-11-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV004040129 SCV004979143 uncertain significance Inborn genetic diseases 2023-12-14 criteria provided, single submitter clinical testing The c.5673C>G (p.D1891E) alteration is located in exon 34 (coding exon 33) of the VWF gene. This alteration results from a C to G substitution at nucleotide position 5673, causing the aspartic acid (D) at amino acid position 1891 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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