Submissions for variant NM_004937.3(CTNS):c.971-12G>A (rs375952052)

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000630474	SCV000751432	pathogenic	Ocular cystinosis; Juvenile nephropathic cystinosis; Nephropathic cystinosis	2019-08-21	criteria provided, single submitter	clinical testing	This sequence change falls in intron 11 of the CTNS gene. It does not directly change the encoded amino acid sequence of the CTNS protein. This variant is present in population databases (rs375952052, ExAC 0.003%). This variant has been observed in individual(s) with cystinosis (PMID: 10556299, 22450360, 25326109). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as c.1310-12G>A in the literature. ClinVar contains an entry for this variant (Variation ID: 526030). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 25326109). For these reasons, this variant has been classified as Pathogenic.
Counsyl	RCV000664494	SCV000788462	pathogenic	Nephropathic cystinosis	2017-02-01	criteria provided, single submitter	clinical testing
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota	RCV000664494	SCV000889960	pathogenic	Nephropathic cystinosis	2016-08-30	criteria provided, single submitter	clinical testing