ClinVar Miner

Submissions for variant NM_139027.6(ADAMTS13):c.2009G>A (p.Arg670His)

gnomAD frequency: 0.00019  dbSNP: rs149953167
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV002261881 SCV002541031 uncertain significance not provided 2021-04-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488654 SCV002781777 uncertain significance Upshaw-Schulman syndrome 2022-02-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002261881 SCV003266713 uncertain significance not provided 2022-05-07 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 670 of the ADAMTS13 protein (p.Arg670His). This variant is present in population databases (rs149953167, gnomAD 0.03%). This missense change has been observed in individual(s) with ADAMTS13-related conditions (PMID: 23648131). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The histidine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
CeGaT Center for Human Genetics Tuebingen RCV002261881 SCV005330955 uncertain significance not provided 2024-08-01 criteria provided, single submitter clinical testing ADAMTS13: PM2, BP4

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