Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000411598 | SCV000486163 | likely pathogenic | Neuronal ceroid lipofuscinosis 5 | 2016-04-07 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000411598 | SCV003821238 | pathogenic | Neuronal ceroid lipofuscinosis 5 | 2022-08-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003766127 | SCV004615813 | pathogenic | Neuronal ceroid lipofuscinosis | 2023-12-02 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln369*) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with neuronal ceroid lipofuscinosis (PMID: 31493945). ClinVar contains an entry for this variant (Variation ID: 370765). For these reasons, this variant has been classified as Pathogenic. |