ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.646dup (p.Thr216fs) (rs893207601)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411977 SCV000486558 pathogenic Nephropathic cystinosis 2016-06-23 criteria provided, single submitter clinical testing
Invitae RCV000703763 SCV000832678 pathogenic Ocular cystinosis; Juvenile nephropathic cystinosis; Nephropathic cystinosis 2019-09-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr216Asnfs*12) 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 been reported in several individuals affected with cystinosis (PMID: 9792862, 18178779, 19863563, 27858370). This variant is also known as c.985insA, p.Thr216Asn in the literature. ClinVar contains an entry for this variant (Variation ID: 371084). Loss-of-function variants in CTNS are known to be pathogenic (PMID: 9537412, 27102039). For these reasons, this variant has been classified as Pathogenic.

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