ClinVar Miner

Submissions for variant NM_018941.4(CLN8):c.570G>T (p.Trp190Cys)

gnomAD frequency: 0.00001  dbSNP: rs772518654
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
3billion, Medical Genetics RCV001808838 SCV002058990 uncertain significance Neuronal ceroid lipofuscinosis 8 northern epilepsy variant 2022-01-03 criteria provided, single submitter clinical testing The variantis observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000012, PM2_M). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.869, 3CNET: 0.991, PP3_P). A missense variant is a common mechanism associated with Ceroid lipofuscinosis (PP2_P). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.
GeneDx RCV004762185 SCV005369100 uncertain significance not provided 2023-06-25 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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.