ClinVar Miner

Submissions for variant NM_001814.6(CTSC):c.486-25_492del

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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 RCV003790810 SCV004582610 likely pathogenic Haim-Munk syndrome; Periodontitis, aggressive 1; Papillon-Lefèvre syndrome 2024-01-08 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 4 (c.486-25_492del) of the CTSC gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and 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 variant has not been reported in the literature in individuals affected with CTSC-related conditions. 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.

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