ClinVar Miner

Submissions for variant NM_139027.6(ADAMTS13):c.539+7G>A

gnomAD frequency: 0.00014  dbSNP: rs184864675
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000337739 SCV000478304 uncertain significance Upshaw-Schulman syndrome 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002523745 SCV003273064 benign not provided 2023-09-19 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003987523 SCV004803305 uncertain significance not specified 2024-01-12 criteria provided, single submitter clinical testing Variant summary: ADAMTS13 c.539+7G>A alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. Consensus agreement among computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.00018 in 251070 control chromosomes (gnomAD). To our knowledge, no occurrence of c.539+7G>A in individuals affected with Thrombotic Thrombocytopenic Purpura and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 365536). Based on the evidence outlined above, the variant was classified as uncertain significance.
Breakthrough Genomics, Breakthrough Genomics RCV002523745 SCV005190556 uncertain significance not provided criteria provided, single submitter not provided

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