Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001389553 | SCV001590948 | pathogenic | Neuronal ceroid lipofuscinosis | 2022-02-09 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with CLN6-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Met66Asnfs*66) 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). ClinVar contains an entry for this variant (Variation ID: 1075854). For these reasons, this variant has been classified as Pathogenic. |