ClinVar Miner

Submissions for variant NM_001814.6(CTSC):c.758-7T>A

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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 RCV001878111 SCV002162219 uncertain significance Haim-Munk syndrome; Periodontitis, aggressive 1; Papillon-Lefèvre syndrome 2022-07-12 criteria provided, single submitter clinical testing This sequence change falls in intron 5 of the CTSC gene. It does not directly change the encoded amino acid sequence of the CTSC protein. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1388992). 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).

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