ClinVar Miner

Submissions for variant NM_000552.4(VWF):c.1625C>G (p.Ala542Gly) (rs141649383)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760113 SCV000521094 uncertain significance not provided 2017-01-17 criteria provided, single submitter clinical testing The A542G variant in the VWF gene has been reported previously in the homozygous state in one individual with von Willebrand disease who was also homozygous for a splice site VWF variant (Corrales et al., 2010). This variant has also been reported in a cohort of individuals with von Willebrand disease; however, no additional information was provided (Veyradier et al., 2016). The NHLBI ESP Exome Sequencing Project reports A542G was observed in 8/8598 (0.09%) alleles from individuals of European American background, indicating it may be a rare variant in this population. The A542G 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 hat is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret A542G as a variant of uncertain significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000760113 SCV000889895 uncertain significance not provided 2017-12-07 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765104 SCV000896324 uncertain significance Von Willebrand disease, recessive form; von Willebrand disease type 1; von Willebrand disease type 2 2018-10-31 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000852047 SCV000899540 likely pathogenic von Willebrand disorder 2019-02-01 criteria provided, single submitter research

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