ClinVar Miner

Submissions for variant NM_006493.4(CLN5):c.956_959del (p.Lys319fs) (rs386833967)

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 RCV000632714 SCV000753900 pathogenic Neuronal ceroid lipofuscinosis 2018-03-13 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the CLN5 gene (p.Lys368Serfs*15). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 40 amino acids of the CLN5 protein. This variant is not present in population databases (ExAC no frequency). This variant has been reported as homozygous, or in combination with a second pathogenic CLN5 variant, in several individuals affected with neuronal ceroid liopfuscinosis (PMID: 22532218, 20157158, 20960652, 25976102, Invitae). ClinVar contains an entry for this variant (Variation ID: 56529). This variant has also been reported as c.1002_1006delAACA. Experimental studies are not available for this variant, and the functional significance of the disrupted amino acids is currently unknown. For these reasons, this variant has been classified as Pathogenic.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049942 SCV000082351 probable-pathogenic Ceroid lipofuscinosis neuronal 5 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.