ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.433C>T (p.Gln145Ter)

dbSNP: rs2076101632
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002561138 SCV001375222 pathogenic Ocular cystinosis; Juvenile nephropathic cystinosis; Inborn genetic diseases 2019-05-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln145*) in the CTNS gene. It is expected to result in an absent or disrupted protein product. 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 been observed an individual affected with nephropathic cystinosis (PMID: 30949462). This variant is not present in population databases (ExAC no frequency).
Natera, Inc. RCV001828636 SCV002093228 pathogenic Cystinosis 2020-12-27 no assertion criteria provided clinical testing

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