Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001241844 | SCV001414893 | pathogenic | Neuronal ceroid lipofuscinosis | 2019-10-21 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser23Profs*10) in the CLN6 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CLN6 are known to be pathogenic (PMID: 19135028). This variant has not been reported in the literature in individuals with CLN6-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. |