ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.114dup (p.Leu39fs)

dbSNP: rs751977093
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
GeneDx RCV000599605 SCV000710241 likely pathogenic not provided 2023-09-10 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 24755471, 25344691, 27453577)
CeGaT Center for Human Genetics Tuebingen RCV000599605 SCV004160211 uncertain significance not provided 2022-11-01 criteria provided, single submitter clinical testing PTCH1: PVS1:Strong
Invitae RCV003609159 SCV004550124 pathogenic Gorlin syndrome 2023-10-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu39Alafs*51) in the PTCH1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PTCH1 are known to be pathogenic (PMID: 16301862, 16419085). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with PTCH1-related conditions. ClinVar contains an entry for this variant (Variation ID: 503940). 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.