ClinVar Miner

Submissions for variant NM_006493.4(CLN5):c.958C>T (p.Gln320Ter)

dbSNP: rs750935331
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
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, Revvity 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.