ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.429C>A (p.Tyr143Ter)

dbSNP: rs1597647930
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002537328 SCV000950482 pathogenic Ocular cystinosis; Juvenile nephropathic cystinosis; Inborn genetic diseases 2018-12-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CTNS are known to be pathogenic (PMID: 9537412, 27102039). This variant has not been reported in the literature in individuals with CTNS-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr143*) in the CTNS gene. It is expected to result in an absent or disrupted protein product.
Baylor Genetics RCV003472408 SCV004212962 likely pathogenic Nephropathic cystinosis 2023-06-27 criteria provided, single submitter clinical testing

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