ClinVar Miner

Submissions for variant NM_139027.6(ADAMTS13):c.845T>A (p.Val282Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003985056 SCV004801337 uncertain significance Upshaw-Schulman syndrome criteria provided, single submitter clinical testing The missense c.845T>A (p.Val282Glu) variant in the ADAMTS13 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid Valine at position 282 is changed to a Glutamic acid changing protein sequence and it might alter its composition and physico-chemical properties. The variant is predicted as damaging by SIFT. The amino acid change p.Val282Glu in ADAMTS13 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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