ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.250C>T (p.Leu84Phe)

gnomAD frequency: 0.00010  dbSNP: rs372664002
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000346508 SCV000380656 uncertain significance Hereditary von Willebrand disease 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000520820 SCV000621607 uncertain significance not provided 2017-10-20 criteria provided, single submitter clinical testing The L84F variant in the VWF gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The L84F variant is observed in 32/34420 (0.093%) alleles from individuals of Latino background in large population cohorts (Lek et al., 2016). The L84F variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved in mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret L84F as a variant of uncertain significance.

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