ClinVar Miner

Submissions for variant NM_139027.6(ADAMTS13):c.4100_4109del (p.Gly1367fs)

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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 RCV003087353 SCV003488375 uncertain significance not provided 2024-05-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly1423Glufs*6) in the ADAMTS13 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 5 amino acid(s) of the ADAMTS13 protein. This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with ADAMTS13-related conditions. ClinVar contains an entry for this variant (Variation ID: 2172296). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 RCV005045293 SCV005678119 uncertain significance Upshaw-Schulman syndrome 2024-04-25 criteria provided, single submitter clinical testing

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