ClinVar Miner

Submissions for variant NM_139027.6(ADAMTS13):c.1787C>T (p.Ala596Val)

gnomAD frequency: 0.00001  dbSNP: rs281875299
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000852051 SCV000899560 pathogenic Thrombotic thrombocytopenic purpura 2019-02-01 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV000059757 SCV003441473 pathogenic not provided 2023-04-12 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 68805). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 596 of the ADAMTS13 protein (p.Ala596Val). This variant is present in population databases (rs281875299, gnomAD 0.01%). This missense change has been observed in individual(s) with thrombotic thrombocytopenic purpura (PMID: 15009458, 22783805, 28678087, 30312976, 31064749, 32496441). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Experimental studies have shown that this missense change affects ADAMTS13 function (PMID: 17849048, 22783805). For these reasons, this variant has been classified as Pathogenic.
UniProtKB/Swiss-Prot RCV000059757 SCV000091327 not provided not provided no assertion provided not provided

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.