ClinVar Miner

Submissions for variant NM_018941.3(CLN8):c.70C>G (p.Arg24Gly) (rs104894064)

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 RCV000409951 SCV000485234 pathogenic Neuronal ceroid lipofuscinosis 8 2016-03-08 criteria provided, single submitter clinical testing
Invitae RCV000820654 SCV000961374 pathogenic Neuronal ceroid lipofuscinosis 2019-04-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 24 of the CLN8 protein (p.Arg24Gly). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and glycine. This variant is present in population databases (rs104894064, ExAC 0.06%). This variant has been observed to segregate with progressive epilepsy with mental retardation, also known as Northern epilepsy, in several families (PMID: 10508524, 16828266). It has generally been reported as homozygous in affected individuals of Finnish descent, suggesting it may be a founder mutation in that population. ClinVar contains an entry for this variant (Variation ID: 2802). Experimental studies have shown that this missense change does not alter the sub-cellular localization of the CLN8 protein, so the mechanism of disease is unclear (PMID: 10861296, 15160397). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000002936 SCV000023094 pathogenic Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 2020-08-11 no assertion criteria provided literature only
GeneReviews RCV000002936 SCV000086981 pathologic Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 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.