ClinVar Miner

Submissions for variant NM_001142604.2(PPT1):c.125-2974T>G (rs1557714302)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Institute Rare Disease Group,Broad Institute RCV000785936 SCV000924516 likely pathogenic Ceroid lipofuscinosis neuronal 1 2018-06-15 criteria provided, single submitter research The homozygous p.Leu49Ter variant was identified by our study in two siblings with neuronal ceroid lipofuscinosis. This variant was absent from large population studies and computational prediction tools suggest that this variant may impact the protein. Loss of function of the PPT1 gene is an established disease mechanism in autosomal recessive neuronal ceroid lipofuscinosis, and this is a loss of function variant. In summary, although additional studies are required to fully establish its pathogenicity, this variant is likely pathogenic.

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.