ClinVar Miner

Submissions for variant NM_001814.6(CTSC):c.719T>G (p.Val240Gly)

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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 RCV001888417 SCV002139133 uncertain significance Haim-Munk syndrome; Periodontitis, aggressive 1; Papillon-Lefèvre syndrome 2022-06-27 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). This variant has not been reported in the literature in individuals affected with CTSC-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change replaces valine with glycine at codon 240 of the CTSC protein (p.Val240Gly). The valine residue is highly conserved and there is a moderate physicochemical difference between valine and glycine. 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.

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