Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001251423 | SCV001427014 | pathogenic | Neuronal ceroid lipofuscinosis | 2024-05-24 | criteria provided, single submitter | clinical testing | Variant summary: CLN3 c.1075delC (p.Leu359CysfsX18) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 249922 control chromosomes. To our knowledge, no occurrence of c.1075delC in individuals affected with Juvenile Neuronal Ceroid-Lipofuscinosis (Juvenile Batten Disease) and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 975016). Based on the evidence outlined above, the variant was classified as pathogenic. |
| Labcorp Genetics |
RCV001251423 | SCV001589224 | pathogenic | Neuronal ceroid lipofuscinosis | 2021-07-20 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CLN3 are known to be pathogenic (PMID: 9311735, 28542676). This variant has not been reported in the literature in individuals with CLN3-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu359Cysfs*18) in the CLN3 gene. It is expected to result in an absent or disrupted protein product. |
| Baylor Genetics | RCV003469484 | SCV004214340 | likely pathogenic | Neuronal ceroid lipofuscinosis 3 | 2023-04-06 | criteria provided, single submitter | clinical testing |