ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.751_754delinsCG (p.Thr251fs) (rs1555564051)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000630475 SCV000751433 pathogenic Ocular cystinosis; Juvenile nephropathic cystinosis; Nephropathic cystinosis 2017-09-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr251Hisfs*44) in the CTNS gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs752180212, ExAC 0.002%). This variant has been reported in two siblings affected with infantile nephropathic cystinosis in combination with a loss-of-function variant in the CTNS gene (PMID: 18752449). 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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