ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.841dup (p.Tyr281fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001062101 SCV001226877 pathogenic Ocular cystinosis; Juvenile nephropathic cystinosis; Nephropathic cystinosis 2019-07-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr281Leufs*15) in the CTNS gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CTNS-related conditions. Loss-of-function variants in CTNS are known to be pathogenic (PMID: 9537412, 27102039). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV001266858 SCV001445038 pathogenic Inborn genetic diseases 2020-01-31 criteria provided, single submitter clinical testing

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