ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.2244del (p.Ala749fs)

dbSNP: rs1564032829
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000693113 SCV000820968 pathogenic Gorlin syndrome 2018-04-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala749Profs*3) 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 not been reported in the literature in individuals with PTCH1-related disease. Loss-of-function variants in PTCH1 are known to be pathogenic (PMID: 16301862, 16419085). For these reasons, this variant has been classified as Pathogenic.
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV000722022 SCV000853197 pathogenic Medulloblastoma 2016-04-27 criteria provided, single submitter clinical testing This is a frameshift alteration in which an A is deleted at coding position 2244 and is predicted to change an Alanine to a Proline at codon 749, shift the reading frame and create a premature stop codon 3 amino acids downstream.

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.