ClinVar Miner

Submissions for variant NM_139027.6(ADAMTS13):c.1157G>A (p.Arg386His)

gnomAD frequency: 0.00020  dbSNP: rs151048660
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001168912 SCV001331551 uncertain significance Upshaw-Schulman syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001859095 SCV002266134 uncertain significance not provided 2022-10-05 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 386 of the ADAMTS13 protein (p.Arg386His). This variant is present in population databases (rs151048660, gnomAD 0.1%). 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: 914642). 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 not expected to disrupt ADAMTS13 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.
GeneDx RCV001859095 SCV002586876 uncertain significance not provided 2022-04-07 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV001168912 SCV002786256 likely benign Upshaw-Schulman syndrome 2024-03-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001859095 SCV005190557 uncertain significance not provided criteria provided, single submitter not provided

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