ClinVar Miner

Submissions for variant NM_000310.4(PPT1):c.455del (p.Cys152fs)

dbSNP: rs886041568
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000356077 SCV000330249 pathogenic not provided 2016-03-04 criteria provided, single submitter clinical testing The c.455delG pathogenic variant in the PPT1 gene has not been reported previously as a pathogenicvariant nor as a benign variant, to our knowledge. This variant causes a frameshift starting with codonCysteine 152, changes this amino acid to a Serine residue, and creates a premature Stop codon atposition 16 of the new reading frame, denoted p.Cys152SerfsX16. This variant is predicted to causeloss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.The c.455delG variant was not observed in approximately 6500 individuals of European and AfricanAmerican ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benignvariant in these populations. We interpret c.455delG as a pathogenic variant.
Baylor Genetics RCV000984304 SCV004204131 pathogenic Neuronal ceroid lipofuscinosis 1 2023-10-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000984304 SCV004614016 pathogenic Neuronal ceroid lipofuscinosis 1 2023-06-12 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 280344). This variant has not been reported in the literature in individuals affected with PPT1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Cys152Serfs*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).
Fulgent Genetics, Fulgent Genetics RCV000984304 SCV005655597 likely pathogenic Neuronal ceroid lipofuscinosis 1 2024-04-15 criteria provided, single submitter clinical testing
Counsyl RCV000984304 SCV001132476 likely pathogenic Neuronal ceroid lipofuscinosis 1 2015-02-11 no assertion criteria provided 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.