ClinVar Miner

Submissions for variant NM_001482.3(GATM):c.1252T>C (p.Leu418=) (rs1145086)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000117124 SCV000307980 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000395145 SCV000391423 benign Arginine:glycine amidinotransferase deficiency 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Athena Diagnostics Inc RCV000711746 SCV000842139 benign not provided 2017-04-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715361 SCV000846190 benign History of neurodevelopmental disorder 2016-01-08 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001285555 SCV001472013 benign none provided 2020-07-29 criteria provided, single submitter clinical testing
Invitae RCV000395145 SCV001729061 benign Arginine:glycine amidinotransferase deficiency 2020-12-05 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117124 SCV000151285 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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000395145 SCV000733459 benign Arginine:glycine amidinotransferase deficiency no assertion criteria provided clinical testing

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