ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.40del (p.Pro13_Leu14insTer)

dbSNP: rs1555558099
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672996 SCV000798158 likely pathogenic Nephropathic cystinosis 2018-02-27 criteria provided, single submitter clinical testing
Invitae RCV002532139 SCV002245954 pathogenic Ocular cystinosis; Juvenile nephropathic cystinosis; Inborn genetic diseases 2023-05-21 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu14*) 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 premature translational stop signal has been observed in individual(s) with cystinosis (PMID: 18752449). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 556926). This variant is also known as c.379delC.
Baylor Genetics RCV000672996 SCV004212977 pathogenic Nephropathic cystinosis 2023-03-24 criteria provided, single submitter clinical testing

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