ClinVar Miner

Submissions for variant NM_001814.6(CTSC):c.140G>T (p.Gly47Val)

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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 RCV002038221 SCV002287917 uncertain significance Haim-Munk syndrome; Periodontitis, aggressive 1; Papillon-Lefèvre syndrome 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces glycine with valine at codon 47 of the CTSC protein (p.Gly47Val). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and valine. This variant is present in population databases (rs569549142, gnomAD 0.08%). This variant has not been reported in the literature in individuals affected with CTSC-related conditions. ClinVar contains an entry for this variant (Variation ID: 1506896). 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: "Benign"; Align-GVGD: "Not Available"). 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.
Ambry Genetics RCV002545492 SCV003553734 uncertain significance Inborn genetic diseases 2022-07-20 criteria provided, single submitter clinical testing The c.140G>T (p.G47V) alteration is located in exon 1 (coding exon 1) of the CTSC gene. This alteration results from a G to T substitution at nucleotide position 140, causing the glycine (G) at amino acid position 47 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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