Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000030726 | SCV001225972 | pathogenic | Gorlin syndrome | 2023-09-04 | 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: 37076). This premature translational stop signal has been observed in individual(s) with PTCH1-related conditions (PMID: 24204797). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp129*) 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). |
OMIM | RCV000030726 | SCV000053387 | pathogenic | Gorlin syndrome | 2012-07-01 | no assertion criteria provided | literature only |