Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001209501 | SCV001380938 | likely pathogenic | Gorlin syndrome | 2019-08-29 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with PTCH1-related conditions. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Loss-of-function variants in PTCH1 are known to be pathogenic (PMID: 16301862, 16419085). This variant results in the deletion of part of exon 20 (c.3307-115_3339del) of the PTCH1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. |