ClinVar Miner

Submissions for variant NM_017882.3(CLN6):c.829_836delinsCCT (p.Val277fs)

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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004526511 SCV005040409 pathogenic Neuronal ceroid lipofuscinosis 2024-03-04 criteria provided, single submitter clinical testing Variant summary: CLN6 c.829_836delinsCCT (p.Val277ProfsX5) results in a premature termination codon, although it is not expected to result in NMD it is predicted to cause a truncation of the encoded protein which is a commonly known mechanism for disease. The variant was absent in 251388 control chromosomes. c.829_836delinsCCT has been reported in the literature in individuals affected with Neuronal Ceroid-Lipofuscinosis (Batten Disease) (Barbosa-Gouveia_2021, Rus_2022). Additionally, variants downstream have been classified on the pathogenic spectrum internally and in ClinVar. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 34440436, 35505348). No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was 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.