ClinVar Miner

Submissions for variant NM_139027.6(ADAMTS13):c.2074C>T (p.Arg692Cys)

gnomAD frequency: 0.00002  dbSNP: rs121908475
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002512822 SCV003441506 pathogenic not provided 2023-10-26 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 692 of the ADAMTS13 protein (p.Arg692Cys). This variant is present in population databases (rs121908475, gnomAD 0.01%). This missense change has been observed in individuals with thrombotic thrombocytopenic purpura (PMID: 11586351, 24433405, 30046676, 30792199). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 5809). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ADAMTS13 protein function with a positive predictive value of 80%. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000006165 SCV000026347 pathogenic Upshaw-Schulman syndrome 2001-10-04 no assertion criteria provided literature only

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