Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000820648 | SCV000961368 | pathogenic | Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome | 2023-04-24 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 662903). This variant has not been reported in the literature in individuals affected with TRNT1-related conditions. This variant is present in population databases (rs776199133, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.His108Glnfs*29) in the TRNT1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TRNT1 are known to be pathogenic (PMID: 25193871). |