ClinVar Miner

Submissions for variant NM_139027.6(ADAMTS13):c.3124C>T (p.Leu1042Phe)

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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 RCV002627231 SCV002972511 uncertain significance not provided 2022-03-19 criteria provided, single submitter clinical testing 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. This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 1042 of the ADAMTS13 protein (p.Leu1042Phe). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ADAMTS13-related conditions. 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 phenylalanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function.
Fulgent Genetics, Fulgent Genetics RCV005042931 SCV005678068 uncertain significance Upshaw-Schulman syndrome 2024-04-25 criteria provided, single submitter clinical testing

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