ClinVar Miner

Submissions for variant NM_017882.3(CLN6):c.896C>T (p.Pro299Leu)

gnomAD frequency: 0.00001  dbSNP: rs758921701
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
Counsyl RCV000665887 SCV000790082 likely pathogenic Ceroid lipofuscinosis, neuronal, 6A 2017-03-06 criteria provided, single submitter clinical testing
Invitae RCV001855448 SCV002202405 pathogenic Neuronal ceroid lipofuscinosis 2024-01-31 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 299 of the CLN6 protein (p.Pro299Leu). This variant is present in population databases (rs758921701, gnomAD 0.003%). This missense change has been observed in individuals with neuronal ceroid lipofuscinosis (PMID: 19135028). ClinVar contains an entry for this variant (Variation ID: 550973). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on CLN6 protein function. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002485526 SCV002776454 pathogenic Ceroid lipofuscinosis, neuronal, 6A; Ceroid lipofuscinosis, neuronal, 6B (Kufs type) 2021-10-14 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.