ClinVar Miner

Submissions for variant NM_001482.3(GATM):c.407C>T (p.Thr136Met) (rs148564534)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187598 SCV000241193 likely benign not specified 2017-09-15 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.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000437121 SCV000511235 uncertain significance not provided 2017-01-09 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Invitae RCV001082642 SCV000646410 benign Arginine:glycine amidinotransferase deficiency 2020-12-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719482 SCV000850349 benign History of neurodevelopmental disorder 2016-06-07 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.
Athena Diagnostics Inc RCV000437121 SCV001143988 likely benign not provided 2018-10-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001082642 SCV001280440 uncertain significance Arginine:glycine amidinotransferase deficiency 2018-01-13 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Hospital for Sick Children RCV000437121 SCV000267662 not provided not provided no assertion provided in vitro
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001251999 SCV001427745 likely benign Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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