ClinVar Miner

Submissions for variant NM_001814.6(CTSC):c.259A>G (p.Ile87Val) (rs45447392)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000662336 SCV000927186 uncertain significance not provided 2017-03-06 criteria provided, single submitter clinical testing
Invitae RCV000802737 SCV000942580 uncertain significance Haim-Munk syndrome; Periodontitis, aggressive, 1; Papillon-Lefèvre syndrome 2018-08-22 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 87 of the CTSC protein (p.Ile87Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs45447392, ExAC 0.02%). This variant has not been reported in the literature in individuals with CTSC-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
GenomeConnect, ClinGen RCV000662336 SCV000784696 not provided not provided no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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