ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.187C>T (p.Arg63Cys)

gnomAD frequency: 0.00002  dbSNP: rs555311279
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001580688 SCV001810388 uncertain significance Nephropathic cystinosis 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001580689 SCV001810389 uncertain significance Juvenile nephropathic cystinosis 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001580690 SCV001810390 uncertain significance Ocular cystinosis 2021-07-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002573265 SCV003470620 uncertain significance Ocular cystinosis; Juvenile nephropathic cystinosis; Inborn genetic diseases 2022-07-21 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 63 of the CTNS protein (p.Arg63Cys). This variant is present in population databases (rs555311279, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with CTNS-related conditions. ClinVar contains an entry for this variant (Variation ID: 1210394). 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 CTNS protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.

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