ClinVar Miner

Submissions for variant NM_139027.6(ADAMTS13):c.1921G>A (p.Glu641Lys)

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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 RCV003338169 SCV004047154 likely pathogenic Upshaw-Schulman syndrome criteria provided, single submitter clinical testing The c.1921G>A (p.Glu641Lys) variant in ADAMTS13 gene has been reported in homozygous state in only one individual affected with Thrombotic thrombocytopenic purpura, hereditary (Chou SC et al.). This variant has allele frequency of 0.0028% in the gnomAD and novel in 1000 genome database. The amino acid Glu at position 641 is changed to a Lys changing protein sequence and it might alter its composition and physico-chemical properties The amino acid change p.Glu641Lys in ADAMTS13 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Likely Pathogenic

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