ClinVar Miner

Submissions for variant NM_139027.6(ADAMTS13):c.22dup (p.Ala8fs)

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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 RCV003683384 SCV004410305 pathogenic not provided 2023-06-29 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with thrombotic thrombocytopenic purpura (PMID: 30312976). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Ala8Glyfs*131) in the ADAMTS13 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ADAMTS13 are known to be pathogenic (PMID: 11586351, 12753286, 21781265).
GeneDx RCV003683384 SCV005378790 likely pathogenic not provided 2024-04-12 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 30312976)

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