ClinVar Miner

Submissions for variant NM_000310.4(PPT1):c.653dup (p.Asn218fs)

dbSNP: rs1057516889
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 RCV000411709 SCV000486386 likely pathogenic Neuronal ceroid lipofuscinosis 1 2016-05-23 criteria provided, single submitter clinical testing
Baylor Genetics RCV000411709 SCV004204168 likely pathogenic Neuronal ceroid lipofuscinosis 1 2023-11-08 criteria provided, single submitter clinical testing
Invitae RCV000411709 SCV004267494 pathogenic Neuronal ceroid lipofuscinosis 1 2023-09-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn218Lysfs*16) in the PPT1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PPT1 are known to be pathogenic (PMID: 10679943, 21990111). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PPT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 370947). For these reasons, this variant has been classified as 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.