Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000144436 | SCV001206810 | pathogenic | Gorlin syndrome | 2021-04-18 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PTCH1 are known to be pathogenic (PMID: 16301862, 16419085). This variant has been observed in an individual affected with basal cell nevus syndrome (BCNS) (PMID: 29575684). ClinVar contains an entry for this variant (Variation ID: 156352). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln365*) in the PTCH1 gene. It is expected to result in an absent or disrupted protein product. |
OMIM | RCV000144436 | SCV000028905 | pathogenic | Gorlin syndrome | 2023-04-24 | no assertion criteria provided | literature only | |
Clin |
RCV000144436 | SCV000189491 | not provided | Gorlin syndrome | no assertion provided | not provided |