Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000410399 | SCV000486800 | likely pathogenic | Neuronal ceroid lipofuscinosis 5 | 2016-08-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003114526 | SCV003787269 | pathogenic | Neuronal ceroid lipofuscinosis | 2023-12-20 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.His101Profs*58) in the CLN5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CLN5 are known to be pathogenic (PMID: 20157158). This variant is present in population databases (no rsID available, gnomAD 0.001%). This variant has not been reported in the literature in individuals affected with CLN5-related conditions. ClinVar contains an entry for this variant (Variation ID: 371261). For these reasons, this variant has been classified as Pathogenic. |