ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.257_258del (p.Ser86fs)

dbSNP: rs879255614
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003765489 SCV004571004 pathogenic Ocular cystinosis; Juvenile nephropathic cystinosis; Inborn genetic diseases 2023-09-09 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 253206). This premature translational stop signal has been observed in individual(s) with cystinosis (PMID: 28238446, 35513889). This sequence change creates a premature translational stop signal (p.Ser86Phefs*38) 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).
IUMS Hospital Medical Genetics Lab, Iran University of Medical Sciences RCV000239629 SCV000297853 pathogenic Cystinosis no assertion criteria provided clinical testing
Rasad Genetic Department, Rasad Pathobiology and Genetic Laboratory RCV002279718 SCV002099449 pathogenic Nephropathic cystinosis 2020-01-01 no assertion criteria provided clinical testing

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