ClinVar Miner

Submissions for variant NM_001814.6(CTSC):c.124del (p.Gln42fs)

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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 RCV002618664 SCV002965318 pathogenic Haim-Munk syndrome; Periodontitis, aggressive 1; Papillon-Lefèvre syndrome 2023-11-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln42Argfs*23) 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 Haim-Munk syndrome (PMID: 31980526). ClinVar contains an entry for this variant (Variation ID: 1929428). For these reasons, this variant has been classified as Pathogenic.

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