ClinVar Miner

Submissions for variant NM_139027.6(ADAMTS13):c.1584+5G>A

gnomAD frequency: 0.00001  dbSNP: rs782235228
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002512823 SCV003441505 uncertain significance not provided 2024-12-03 criteria provided, single submitter clinical testing This sequence change falls in intron 13 of the ADAMTS13 gene. It does not directly change the encoded amino acid sequence of the ADAMTS13 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs782235228, gnomAD 0.003%). This variant has been observed in individual(s) with thrombotic thrombocytopenic purpura (PMID: 11586351). ClinVar contains an entry for this variant (Variation ID: 5810). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Fulgent Genetics, Fulgent Genetics RCV000006166 SCV005677979 likely pathogenic Upshaw-Schulman syndrome 2024-05-03 criteria provided, single submitter clinical testing
OMIM RCV000006166 SCV000026348 pathogenic Upshaw-Schulman syndrome 2001-10-04 no assertion criteria provided literature only

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