ClinVar Miner

Submissions for variant NM_001814.6(CTSC):c.90C>A (p.Cys30Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003783587 SCV004570823 pathogenic Haim-Munk syndrome; Periodontitis, aggressive 1; Papillon-Lefèvre syndrome 2023-11-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys30*) 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 CTSC-related conditions (PMID: 15857086). For these reasons, this variant has been classified as Pathogenic.

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