ClinVar Miner

Submissions for variant NM_000086.2(CLN3):c.242C>T (p.Pro81Leu) (rs137906617)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000725785 SCV000240599 uncertain significance not provided 2018-03-22 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the CLN3 gene. The P81L variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The P81L variant is observed in 28/10152 (0.3%) alleles from individuals of Ashkenazi Jewish background in large population cohorts (Lek et al., 2016). The P81L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725785 SCV000339352 uncertain significance not provided 2016-02-22 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000300798 SCV000396337 uncertain significance Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000551274 SCV000628929 likely benign Neuronal ceroid lipofuscinosis 2017-11-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718743 SCV000849607 uncertain significance Seizures 2016-08-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000785090 SCV000923645 uncertain significance not specified 2019-01-01 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000791120 SCV000930394 uncertain significance Epilepsy, progressive myoclonic 3 2019-04-27 criteria provided, single submitter clinical testing

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.