ClinVar Miner

Submissions for variant NM_001909.5(CTSD):c.844G>A (p.Gly282Arg) (rs147278302)

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Total submissions: 10
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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 2020-12-04 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000116857 SCV000339182 benign not specified 2016-01-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,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 RCV000716794 SCV000847637 benign Seizures 2017-01-24 criteria provided, single submitter clinical testing General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;In silico models in agreement (benign) ;Sub-population frequency in support of benign classification (not ava blue, manual h-w)
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,VU University Medical Center Amsterdam RCV000625068 SCV000745773 likely benign Neuronal ceroid lipofuscinosis 10 2017-02-20 no assertion criteria provided clinical testing

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