Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Research Center, |
RCV000661991 | SCV000784322 | likely pathogenic | Periodontitis, aggressive 1 | 2018-03-05 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001332042 | SCV001524240 | pathogenic | Papillon-Lefèvre syndrome | 2020-05-05 | criteria provided, single submitter | clinical testing | This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |
Invitae | RCV003767920 | SCV004570821 | pathogenic | Haim-Munk syndrome; Periodontitis, aggressive 1; Papillon-Lefèvre syndrome | 2024-01-12 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 272 of the CTSC protein (p.Arg272Pro). This variant is present in population databases (rs587777534, gnomAD 0.01%). This missense change has been observed in individuals with Papillon-Lef√®vre syndrome (PMID: 10581027, 15585850, 19816003). ClinVar contains an entry for this variant (Variation ID: 548504). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CTSC protein function with a positive predictive value of 80%. For these reasons, this variant has been classified as Pathogenic. |
Center for Genomic Medicine, |
RCV001332042 | SCV004805168 | pathogenic | Papillon-Lefèvre syndrome | 2024-03-17 | criteria provided, single submitter | research |