ClinVar Miner

Submissions for variant NM_001814.6(CTSC):c.757G>A (p.Ala253Thr)

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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 RCV003037423 SCV003440578 uncertain significance Haim-Munk syndrome; Periodontitis, aggressive 1; Papillon-Lefèvre syndrome 2022-03-10 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with Papillon-Lefevre syndrome (PMID: 17943190, 29925593). 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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"). This variant is also known as p.A253I and p.A253SfsX30. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 253 of the CTSC protein (p.Ala253Thr). This variant also falls at the last nucleotide of exon 5, which is part of the consensus splice site for this exon.

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