Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000521345 | SCV000620322 | likely pathogenic | not provided | 2017-08-23 | criteria provided, single submitter | clinical testing | A variant that is likely pathogenic has been identified in the CLN5 gene. The W77X nonsense variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The W77X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The W77X variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded. |
| Labcorp Genetics |
RCV001858008 | SCV002227734 | pathogenic | Neuronal ceroid lipofuscinosis | 2023-08-30 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp77*) in the CLN5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CLN5 are known to be pathogenic (PMID: 20157158). This variant is present in population databases (rs200348035, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with CLN5-related conditions. ClinVar contains an entry for this variant (Variation ID: 451600). For these reasons, this variant has been classified as Pathogenic. |
| Baylor Genetics | RCV000984156 | SCV004214386 | pathogenic | Neuronal ceroid lipofuscinosis 5 | 2023-06-06 | criteria provided, single submitter | clinical testing | |
| Counsyl | RCV000984156 | SCV001132157 | likely pathogenic | Neuronal ceroid lipofuscinosis 5 | 2015-06-23 | no assertion criteria provided | clinical testing |