Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001380128 | SCV001578075 | pathogenic | Neuronal ceroid lipofuscinosis | 2020-03-01 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with CLN6-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gly195Leufs*2) in the CLN6 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CLN6 are known to be pathogenic (PMID: 19135028). For these reasons, this variant has been classified as Pathogenic. |