ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.646_647insAA (p.Thr216fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003468559 SCV004215217 likely pathogenic Nephropathic cystinosis 2023-01-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003779170 SCV004587110 pathogenic Ocular cystinosis; Juvenile nephropathic cystinosis; Inborn genetic diseases 2023-10-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr216Lysfs*3) in the CTNS gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CTNS are known to be pathogenic (PMID: 9537412, 27102039). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CTNS-related conditions. For these reasons, this variant has been classified as Pathogenic.

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