ClinVar Miner

Submissions for variant NM_001814.6(CTSC):c.570C>G (p.Tyr190Ter)

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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 RCV001915195 SCV002168081 pathogenic Haim-Munk syndrome; Periodontitis, aggressive 1; Papillon-Lefèvre syndrome 2021-09-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr190*) 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 (ExAC no frequency). This variant has not been reported in the literature in individuals affected with CTSC-related conditions. For these reasons, this variant has been classified as Pathogenic.

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