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

gnomAD frequency: 0.01867  dbSNP: rs35086888

Total submissions: 13

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
Labcorp Genetics (formerly Invitae), Labcorp	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
Breakthrough Genomics, Breakthrough Genomics	RCV000440461	SCV005217949	likely benign	not provided		criteria provided, single submitter	not provided
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
PreventionGenetics, part of Exact Sciences	RCV003914807	SCV004731501	benign	CTNS-related disorder	2019-07-01	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).