ClinVar Miner

Submissions for variant NM_000086.2(CLN3):c.206C>T (p.Ser69Leu) (rs769840061)

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
GeneDx RCV000187025 SCV000240598 uncertain significance not provided 2018-10-03 criteria provided, single submitter clinical testing The S69L variant in the CLN3 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. Thee S69L variant is observed in 2/9610 (0.02%) alleles from individuals of Latino background, with no homozygotes observed, in large population cohorts (Lek et al., 2016). The S69L variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret S69L as a variant of uncertain significance.
Invitae RCV000557899 SCV000628927 uncertain significance Neuronal ceroid lipofuscinosis 2017-12-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717947 SCV000848808 uncertain significance Seizures 2017-01-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence

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.