Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000760540 | SCV000890431 | likely pathogenic | not provided | 2018-03-13 | criteria provided, single submitter | clinical testing | A variant that is likely pathogenic has been identified in the TSEN54 gene. The K347X variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The K347X nonsense variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The K347X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded. |
Revvity Omics, |
RCV000760540 | SCV002020312 | likely pathogenic | not provided | 2021-04-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000760540 | SCV002174870 | pathogenic | not provided | 2023-12-17 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Lys347*) in the TSEN54 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TSEN54 are known to be pathogenic (PMID: 18711368, 20952379). This variant is present in population databases (rs143604970, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with TSEN54-related conditions. ClinVar contains an entry for this variant (Variation ID: 620188). For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV002493386 | SCV002776249 | likely pathogenic | Pontocerebellar hypoplasia type 4; Pontocerebellar hypoplasia type 2A; Pontocerebellar hypoplasia type 5 | 2021-07-26 | criteria provided, single submitter | clinical testing |