ClinVar Miner

Submissions for variant NM_000086.2(CLN3):c.622dup (p.Ser208fs) (rs386833736)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000555143 SCV000628935 pathogenic Neuronal ceroid lipofuscinosis 2017-03-17 criteria provided, single submitter clinical testing This sequence change inserts 1 nucleotide in exon 9 of the CLN3 mRNA (c.622dupT), causing a frameshift at codon 208. This creates a premature translational stop signal (p.Ser208Phefs*28) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in CLN3 are known to be pathogenic. This particular variant has been reported in the literature in an individual with Juvenile neuronal ceroid lipofuscinosis (PMID: 21499717). In the literature, this variant is also known as c.622_623insT. For these reasons, this variant has been classified as Pathogenic.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049699 SCV000082106 probable-pathogenic Juvenile neuronal ceroid lipofuscinosis no assertion criteria provided not provided Converted during submission to Likely 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.