Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001236145 | SCV001408858 | pathogenic | Neuronal ceroid lipofuscinosis | 2021-03-24 | 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 with CLN8-related conditions. ClinVar contains an entry for this variant (Variation ID: 962311). This variant is present in population databases (rs759598033, ExAC 0.001%). This sequence change creates a premature translational stop signal (p.Phe143Leufs*16) in the CLN8 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CLN8 are known to be pathogenic (PMID: 15024724). |