ClinVar Miner

Submissions for variant NM_025219.3(DNAJC5):c.344T>G (p.Leu115Arg)

dbSNP: rs387907043
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Research Unit for Rare Diseases, 1st Faculty of Medicine, Charles University in Prague RCV000023879 SCV000999258 pathogenic Ceroid lipofuscinosis, neuronal, 4 (Kufs type) criteria provided, single submitter research The c.344T>G (p.(L115R)) in exon 4 of DNAJC5 (NM_025219.2) variant was reported by Noskova et al. in 2011 as causative for ausomal dominant adult-onset neuronal ceroid lipofuscinosis (DOI: 10.1016/j.ajhg.2011.07.003).
GeneDx RCV002466414 SCV002762200 pathogenic not provided 2022-06-08 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect on protein function (Greaves et al., 2012; Jedlikov et al., 2020); 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; This variant is associated with the following publications: (PMID: 22978711, 26610600, 31919451, 24277206, 22235333, 21820099, 12112194, 11489285, 22073189, 22902780)
OMIM RCV000023879 SCV000045170 pathogenic Ceroid lipofuscinosis, neuronal, 4 (Kufs type) 2013-06-01 no assertion criteria provided literature only

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.