ClinVar Miner

Submissions for variant NM_006493.4(CLN5):c.78G>A (p.Trp26Ter) (rs104894385)

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 RCV000002674 SCV000793505 pathogenic Neuronal ceroid lipofuscinosis 5 2017-08-17 criteria provided, single submitter clinical testing
Invitae RCV000689128 SCV000816767 pathogenic Neuronal ceroid lipofuscinosis 2018-05-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp75*) in the CLN5 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs104894385, ExAC 0.01%). This variant has been reported as homozygous in a family affected with Finnish variant late infantile neuronal ceroid lipofuscinosis (PMID: 9662406) and it has been observed on the opposite chromosome (in trans) from another pathogenic variant in an individual affected with a CLN5-related condition (Invitae). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. ClinVar contains an entry for this variant (Variation ID: 2565). Loss-of-function variants in CLN5 are known to be pathogenic (PMID: 20157158). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000002674 SCV000022832 pathogenic Neuronal ceroid lipofuscinosis 5 1998-07-01 no assertion criteria provided literature only
GeneReviews RCV000002674 SCV000086948 pathologic Neuronal ceroid lipofuscinosis 5 2013-08-01 no assertion criteria provided curation Converted during submission to 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.