ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.6016G>A (p.Glu2006Lys)

gnomAD frequency: 0.00023  dbSNP: rs140229844
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001773981 SCV001994451 uncertain significance not provided 2019-08-16 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. However, splice predictors suggest this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003401684 SCV004122452 uncertain significance not specified 2023-10-31 criteria provided, single submitter clinical testing Variant summary: VWF c.6016G>A (p.Glu2006Lys) results in a conservative amino acid change located in the von Willebrand factor, type D domain (IPR001846) of the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 6.8e-05 in 251260 control chromosomes. To our knowledge, no occurrence of c.6016G>A in individuals affected with Von Willebrand Disease and no experimental evidence demonstrating its impact on protein function have been reported. One submitter has cited clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Fulgent Genetics, Fulgent Genetics RCV005006019 SCV005629984 uncertain significance von Willebrand disease type 1; von Willebrand disease type 3; von Willebrand disease type 2 2024-04-18 criteria provided, single submitter clinical testing

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