ClinVar Miner

Submissions for variant NM_139027.6(ADAMTS13):c.3482T>C (p.Ile1161Thr)

gnomAD frequency: 0.00007  dbSNP: rs200847393
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001843981 SCV002103231 pathogenic not provided 2022-01-24 criteria provided, single submitter clinical testing PP1, PP4, PM3_very_strong, PS3_supporting
Labcorp Genetics (formerly Invitae), Labcorp RCV001843981 SCV003441321 pathogenic not provided 2024-12-20 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1217 of the ADAMTS13 protein (p.Ile1217Thr). This variant is present in population databases (rs200847393, gnomAD 0.02%). This missense change has been observed in individual(s) with thrombotic thrombocytopenic purpura (PMID: 18481107, 23870247, 26085195, 30792199, 31874663). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 1343360). 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. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005040408 SCV005678096 pathogenic Upshaw-Schulman syndrome 2024-01-11 criteria provided, single submitter clinical testing

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