ClinVar Miner

Submissions for variant NM_139027.6(ADAMTS13):c.3420C>A (p.His1140Gln)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University Hospital Muenster RCV004584566 SCV002578107 uncertain significance See cases 2021-12-15 criteria provided, single submitter clinical testing ACMG categories: PM1,PM2
Labcorp Genetics (formerly Invitae), Labcorp RCV003097735 SCV003265729 uncertain significance not provided 2023-10-04 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1196 of the ADAMTS13 protein (p.His1196Gln). This variant is present in population databases (rs782230828, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with ADAMTS13-related conditions. ClinVar contains an entry for this variant (Variation ID: 1708458). 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 tolerated. Experimental studies have shown that this missense change does not substantially affect ADAMTS13 function (PMID: 27802307). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Revvity Omics, Revvity RCV003138155 SCV003822580 uncertain significance Upshaw-Schulman syndrome 2019-11-04 criteria provided, single submitter clinical testing

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