ClinVar Miner

Submissions for variant NM_139027.6(ADAMTS13):c.55C>T (p.Leu19Phe)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003861120 SCV004667656 uncertain significance not provided 2023-03-26 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 19 of the ADAMTS13 protein (p.Leu19Phe). 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. 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. This variant has not been reported in the literature in individuals affected with ADAMTS13-related conditions. This variant is present in population databases (rs782561010, gnomAD 0.04%).
Fulgent Genetics, Fulgent Genetics RCV005040584 SCV005681439 uncertain significance Upshaw-Schulman syndrome 2024-04-10 criteria provided, single submitter clinical testing

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