Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000195968 | SCV000253687 | pathogenic | Gorlin syndrome | 2020-08-10 | criteria provided, single submitter | clinical testing | This sequence change affects a donor splice site in intron 20 of the PTCH1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of basal cell nevus syndrome (PMID: 27561271). ClinVar contains an entry for this variant (Variation ID: 215985). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 27561271). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in PTCH1 are known to be pathogenic (PMID: 16301862, 16419085). For these reasons, this variant has been classified as Pathogenic. |