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

dbSNP: rs879255615

Total submissions: 5

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