Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003529655 | SCV004306385 | pathogenic | Inflammatory skin and bowel disease, neonatal, 1 | 2023-07-20 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with ADAM17-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Met435Ilefs*13) in the ADAM17 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ADAM17 are known to be pathogenic (PMID: 22010916, 25804906). |