ClinVar Miner

Submissions for variant NM_001814.6(CTSC):c.855dup (p.Gln286fs)

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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 RCV000697206 SCV000825803 likely pathogenic Haim-Munk syndrome; Periodontitis, aggressive 1; Papillon-Lefèvre syndrome 2023-06-19 criteria provided, single submitter clinical testing This variant is also known as 2673-2674delCT. This variant has not been reported in the literature in individuals affected with CTSC-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln286Serfs*7) in the CTSC gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 178 amino acid(s) of the CTSC protein. ClinVar contains an entry for this variant (Variation ID: 575092). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the C-terminus of the CTSC protein. Other variant(s) that disrupt this region (p.Ser343*, p.Gly350Valfs*10, p.Tyr352*, p.Leu381Serfs*13) have been observed in individuals with CTSC-related conditions (PMID: 1886537, 10593994). This suggests that this may be a clinically significant region of the protein.

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