ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.556A>C (p.Ile186Leu)

gnomAD frequency: 0.00009  dbSNP: rs548772179
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002548075 SCV002136805 uncertain significance Ocular cystinosis; Juvenile nephropathic cystinosis; Inborn genetic diseases 2022-10-25 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 186 of the CTNS protein (p.Ile186Leu). This variant is present in population databases (rs548772179, 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: 1363251). 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. 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 RCV003346727 SCV004066876 uncertain significance Inborn genetic diseases 2023-07-25 criteria provided, single submitter clinical testing The c.556A>C (p.I186L) alteration is located in exon 8 (coding exon 6) of the CTNS gene. This alteration results from a A to C substitution at nucleotide position 556, causing the isoleucine (I) at amino acid position 186 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005095351 SCV005641916 uncertain significance Ocular cystinosis; Juvenile nephropathic cystinosis; Nephropathic cystinosis 2024-03-25 criteria provided, single submitter clinical testing

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