ClinVar Miner

Submissions for variant NM_001814.6(CTSC):c.769A>G (p.Ser257Gly)

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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 RCV002013382 SCV002296979 uncertain significance Haim-Munk syndrome; Periodontitis, aggressive 1; Papillon-Lefèvre syndrome 2022-03-12 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 257 of the CTSC protein (p.Ser257Gly). 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. 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: "Possibly Damaging"; 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 RCV002642103 SCV003618455 uncertain significance Inborn genetic diseases 2022-04-22 criteria provided, single submitter clinical testing The c.769A>G (p.S257G) alteration is located in exon 6 (coding exon 6) of the CTSC gene. This alteration results from a A to G substitution at nucleotide position 769, causing the serine (S) at amino acid position 257 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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