ClinVar Miner

Submissions for variant NM_001042432.2(CLN3):c.1059C>A (p.Cys353Ter)

dbSNP: rs1057516677
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410540 SCV000486053 likely pathogenic Neuronal ceroid lipofuscinosis 3 2016-03-22 criteria provided, single submitter clinical testing
Mendelics RCV000989587 SCV001140077 pathogenic Neuronal ceroid lipofuscinosis 2019-05-28 criteria provided, single submitter clinical testing
Baylor Genetics RCV000410540 SCV004214308 likely pathogenic Neuronal ceroid lipofuscinosis 3 2023-10-10 criteria provided, single submitter clinical testing
Invitae RCV000989587 SCV004426240 pathogenic Neuronal ceroid lipofuscinosis 2023-01-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 370675). This variant has not been reported in the literature in individuals affected with CLN3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Cys353*) in the CLN3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CLN3 are known to be pathogenic (PMID: 9311735, 28542676).

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.