ClinVar Miner

Submissions for variant NM_000156.6(GAMT):c.189G>C (p.Arg63=)

gnomAD frequency: 0.00002  dbSNP: rs568392459
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726258 SCV000343224 uncertain significance not provided 2016-07-15 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000329271 SCV000410913 uncertain significance Deficiency of guanidinoacetate methyltransferase 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.
GeneDx RCV000406805 SCV000521652 likely benign not specified 2017-12-27 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 RCV001086826 SCV000777305 likely benign Cerebral creatine deficiency syndrome 2024-01-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002314028 SCV000848588 likely benign Inborn genetic diseases 2016-12-23 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
CeGaT Center for Human Genetics Tuebingen RCV000726258 SCV004139062 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing GAMT: BP4, BP7

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