ClinVar Miner

Submissions for variant NM_001083602.2(PTCH1):c.58_59CT[1] (p.Leu21fs) (rs864622212)

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
Invitae RCV000205683 SCV000259714 pathogenic Gorlin syndrome 2018-08-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu87Ilefs*2) in the PTCH1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals and families affected with nevoid basal cell carcinoma syndrome (PMID: 8981943, 16301862). ClinVar contains an entry for this variant (Variation ID: 219697). Loss-of-function variants in PTCH1 are known to be pathogenic (PMID: 16301862, 16419085). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000374909 SCV000329475 pathogenic not provided 2016-11-09 criteria provided, single submitter clinical testing The c.258_259delCT pathogenic variant in the PTCH gene has been reported previously in association with Gorlin syndrome using different numbering (Wicking et al., 1997). This deletion causes a frameshift starting with codon Leucine 87, changes this amino acid to an Isoleucine residue and creates a premature Stop codon at position 2 of the new reading frame, denoted p.Leu87IlefsX2. The c.258_259delCT variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. It is predicted to result in nonsense-mediated mRNA decay or in premature protein truncation.

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.