ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.589G>A (p.Gly197Arg) (rs113994207)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169004 SCV000220144 likely pathogenic Nephropathic cystinosis 2014-03-03 criteria provided, single submitter literature only
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514820 SCV000609716 likely pathogenic not provided 2017-05-22 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763395 SCV000894116 likely pathogenic Ocular cystinosis; Juvenile nephropathic cystinosis; Nephropathic cystinosis 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000763395 SCV000935698 pathogenic Ocular cystinosis; Juvenile nephropathic cystinosis; Nephropathic cystinosis 2019-11-11 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 197 of the CTNS protein (p.Gly197Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs113994207, ExAC 0.01%). This variant has been observed in several individuals affected with CTNS-related conditions (PMID: 10625078, 11505338, 28649545). ClinVar contains an entry for this variant (Variation ID: 4451). Experimental studies have shown that this missense change has a deleterious effect on protein function (PMID: 15128704, 29467429). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000004704 SCV000024879 pathogenic Ocular cystinosis 2000-01-01 no assertion criteria provided literature only
GeneReviews RCV000004704 SCV000041135 pathologic Ocular cystinosis 2011-08-11 no assertion criteria provided curation Converted during submission to Pathogenic.

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