Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000480196 | SCV000573502 | pathogenic | not provided | 2020-11-04 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV001227735 | SCV001400105 | pathogenic | Gorlin syndrome | 2019-11-07 | 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 not been reported in the literature in individuals with PTCH1-related conditions. ClinVar contains an entry for this variant (Variation ID: 423765). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln901*) in the PTCH1 gene. It is expected to result in an absent or disrupted protein product. |