ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.890G>A (p.Trp297Ter)

dbSNP: rs917630768
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666309 SCV000790580 pathogenic Nephropathic cystinosis 2017-03-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002530676 SCV002238277 pathogenic Ocular cystinosis; Juvenile nephropathic cystinosis; Inborn genetic diseases 2023-09-12 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 551289). This premature translational stop signal has been observed in individual(s) with cystinosis (PMID: 12825071, 26565940). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp297*) 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).
Baylor Genetics RCV000666309 SCV004212942 pathogenic Nephropathic cystinosis 2023-09-29 criteria provided, single submitter clinical testing

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