ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.140+2dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004577305 SCV005061268 likely pathogenic Nephropathic cystinosis criteria provided, single submitter clinical testing The splice donor c.140+2dup variant in the CTNS gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is reported with the allele frequency (0.0003%) in the gnomAD Exomes and novel (not in any individuals) in 1000 Genomes. This variant change affects the donor splice site in intron 4 of the CTNS gene. Loss of function variants has been previously reported to be disease causing (Brasell et al., 2019). For these reasons, this variant has been classified as Likely Pathogenic.

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