ClinVar Miner

Submissions for variant NM_000310.4(PPT1):c.721del (p.Ser241fs)

dbSNP: rs1553166499
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673437 SCV000798639 likely pathogenic Neuronal ceroid lipofuscinosis 1 2018-03-16 criteria provided, single submitter clinical testing
Invitae RCV000673437 SCV001592245 pathogenic Neuronal ceroid lipofuscinosis 1 2021-01-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the PPT1 protein. Other variant(s) that disrupt this region (p.Asp267Thrfs*5) have been determined to be pathogenic (Invitae). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This variant has not been reported in the literature in individuals with PPT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 557311). This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the PPT1 gene (p.Ser241Argfs*31). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 66 amino acids of the PPT1 protein.

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.