ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.292dup (p.Thr98fs)

dbSNP: rs786204434
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169050 SCV000220210 likely pathogenic Nephropathic cystinosis 2014-04-03 criteria provided, single submitter literature only
Baylor Genetics RCV000169050 SCV004212965 pathogenic Nephropathic cystinosis 2023-06-19 criteria provided, single submitter clinical testing
Invitae RCV003765053 SCV004571005 pathogenic Ocular cystinosis; Juvenile nephropathic cystinosis; Inborn genetic diseases 2023-04-06 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: 188741). This variant is also known as 292-293insA. This premature translational stop signal has been observed in individual(s) with cystinosis (PMID: 12204010). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr98Asnfs*27) 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).

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