ClinVar Miner

Submissions for variant NM_139027.6(ADAMTS13):c.1492C>T (p.Arg498Cys)

gnomAD frequency: 0.00002  dbSNP: rs201457594
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001785886 SCV002021300 likely pathogenic Upshaw-Schulman syndrome 2019-09-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003728006 SCV004540482 likely pathogenic not provided 2023-08-04 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. 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. ClinVar contains an entry for this variant (Variation ID: 1323853). This missense change has been observed in individual(s) with congenital thrombotic thrombocytopenic purpura (PMID: 24859360, 29763513). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs201457594, gnomAD 0.009%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 498 of the ADAMTS13 protein (p.Arg498Cys).

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