ClinVar Miner

Submissions for variant NM_001814.6(CTSC):c.856C>T (p.Gln286Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003764534 SCV004570768 pathogenic Haim-Munk syndrome; Periodontitis, aggressive 1; Papillon-Lefèvre syndrome 2023-07-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln286*) 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. This variant is present in population databases (rs104894209, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with Papillon-Lefevre syndrome (PMID: 10593994). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 7292). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant disrupts a region of the CTSC protein in which other variant(s) (p.Gln286Arg) have been determined to be pathogenic (PMID: 10662807). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000007715 SCV000027916 pathogenic Papillon-Lefèvre syndrome 1999-12-01 no assertion criteria provided literature only

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