ClinVar Miner

Submissions for variant NM_001814.6(CTSC):c.815G>C (p.Arg272Pro)

dbSNP: rs587777534
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences 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, King Faisal Specialist Hospital and Research Center RCV001332042 SCV004805168 pathogenic Papillon-Lefèvre syndrome 2024-03-17 criteria provided, single submitter research

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