ClinVar Miner

Submissions for variant NM_001909.5(CTSD):c.844G>A (p.Gly282Arg)

gnomAD frequency: 0.00650  dbSNP: rs147278302
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
GeneDx RCV000116857 SCV000168055 benign not specified 2016-11-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001079523 SCV000287211 benign Neuronal ceroid lipofuscinosis 2024-02-01 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000116857 SCV000339182 benign not specified 2016-01-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000625068 SCV000369561 likely benign Neuronal ceroid lipofuscinosis 10 2018-02-13 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 RCV000431476 SCV000511690 likely benign not provided 2016-09-22 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Athena Diagnostics Inc RCV000116857 SCV000613029 benign not specified 2017-01-24 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000625068 SCV000743667 benign Neuronal ceroid lipofuscinosis 10 2014-10-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313875 SCV000847637 benign Inborn genetic diseases 2017-01-24 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV000625068 SCV002802254 likely benign Neuronal ceroid lipofuscinosis 10 2021-08-12 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116857 SCV000150931 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000625068 SCV000745773 likely benign Neuronal ceroid lipofuscinosis 10 2017-02-20 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.