ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.735G>A (p.Trp245Ter)

dbSNP: rs2150925108
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002551580 SCV001592752 pathogenic Ocular cystinosis; Juvenile nephropathic cystinosis; Inborn genetic diseases 2024-02-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp245*) 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 premature translational stop signal has been observed in individual(s) with cystinosis (PMID: 24464559). ClinVar contains an entry for this variant (Variation ID: 1076859). For these reasons, this variant has been classified as Pathogenic.

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