ClinVar Miner

Submissions for variant NM_006493.4(CLN5):c.566_*1548del (p.Gly189fs)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000700461 SCV000829218 pathogenic Neuronal ceroid lipofuscinosis 2018-06-05 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing part of exon 4 of the CLN5 gene. The 5' boundary is located at c.752 (p.Asp251). The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. A similar deletion encompassing  a large portion of exon 4 has been reported in combination with other CLN5 alleles in individuals with neuronal ceroid lipofuscinosis (PMID: 20157158). A different truncation (p.Tyr392*) that lies downstream of this variant has been determined to be pathogenic (PMID: 9662406, Invitae). This suggests that deletion of this region of the CLN5 protein is causative of disease. For these reasons, this variant has been classified as 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.