ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.124G>A (p.Val42Ile)

gnomAD frequency: 0.01867  dbSNP: rs35086888
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 11
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000276289 SCV000402213 likely benign Nephropathic cystinosis 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000333816 SCV000402214 likely benign Ocular cystinosis 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000440461 SCV000511221 benign not provided 2016-10-11 criteria provided, single submitter clinical testing
Invitae RCV002512765 SCV000751434 benign Ocular cystinosis; Juvenile nephropathic cystinosis; Inborn genetic diseases 2024-01-31 criteria provided, single submitter clinical testing
Mendelics RCV000276289 SCV001140213 likely benign Nephropathic cystinosis 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV000440461 SCV001840655 benign not provided 2019-04-20 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 15128704, 10556299, 20981092, 24123366)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001699175 SCV002050958 likely benign not specified 2021-12-10 criteria provided, single submitter clinical testing
OMIM RCV000004700 SCV000024875 pathogenic Cystinosis, atypical nephropathic 1999-12-01 no assertion criteria provided literature only
Natera, Inc. RCV001276655 SCV001463145 benign Cystinosis 2020-09-16 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001699175 SCV001926683 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001699175 SCV001952513 benign not specified no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.