Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003783588 | SCV004570853 | pathogenic | Haim-Munk syndrome; Periodontitis, aggressive 1; Papillon-Lefèvre syndrome | 2023-09-26 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu7Phefs*58) in the CTSC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CTSC are known to be pathogenic (PMID: 10662808, 11106356, 11886537). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Papillon-Lefevre syndrome (PMID: 20236208). For these reasons, this variant has been classified as Pathogenic. |