ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.323del (p.Gln108fs)

dbSNP: rs879255615
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672038 SCV000797097 likely pathogenic Nephropathic cystinosis 2018-01-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV000672038 SCV004215229 pathogenic Nephropathic cystinosis 2022-02-22 criteria provided, single submitter clinical testing
Invitae RCV003765488 SCV004571039 pathogenic Ocular cystinosis; Juvenile nephropathic cystinosis; Inborn genetic diseases 2023-11-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln108Argfs*10) 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: 28238446, 35513889). ClinVar contains an entry for this variant (Variation ID: 253205). For these reasons, this variant has been classified as Pathogenic.
IUMS Hospital Medical Genetics Lab, Iran University of Medical Sciences RCV000239704 SCV000297854 pathogenic Cystinosis no assertion criteria provided clinical testing
Rasad Genetic Department, Rasad Pathobiology and Genetic Laboratory RCV000672038 SCV002099450 pathogenic Nephropathic cystinosis 2020-01-01 no assertion criteria provided clinical testing

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