ClinVar Miner

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

gnomAD frequency: 0.00016  dbSNP: 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
Labcorp Genetics (formerly Invitae), Labcorp RCV000802737 SCV000942580 uncertain significance Haim-Munk syndrome; Periodontitis, aggressive 1; Papillon-Lefèvre syndrome 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 87 of the CTSC protein (p.Ile87Val). This variant is present in population databases (rs45447392, gnomAD 0.03%). 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: 548698). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CTSC protein function. 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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