ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.140+6T>C

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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 RCV003090798 SCV003468330 uncertain significance Ocular cystinosis; Juvenile nephropathic cystinosis; Inborn genetic diseases 2022-08-23 criteria provided, single submitter clinical testing This sequence change falls in intron 4 of the CTNS gene. It does not directly change the encoded amino acid sequence of the CTNS protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs533430300, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with CTNS-related conditions. 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 is not likely to affect RNA splicing. 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003491229 SCV004241929 uncertain significance not specified 2023-12-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV004614342 SCV005105681 uncertain significance Inborn genetic diseases 2024-05-13 criteria provided, single submitter clinical testing The c.140+6T>C intronic alteration consists of a T to C substitution nucleotides after coding exon 2 in the CTNS gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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