ClinVar Miner

Submissions for variant NM_014324.6(AMACR):c.782T>C (p.Met261Thr)

gnomAD frequency: 0.01320  dbSNP: rs3195678
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224095 SCV000280985 benign not provided 2016-05-19 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000364524 SCV000457125 benign Alpha-methylacyl-CoA racemase 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 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.
GeneDx RCV000423128 SCV000521782 benign not specified 2016-03-24 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 RCV000364524 SCV001103025 benign Alpha-methylacyl-CoA racemase deficiency 2024-02-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503880 SCV002794619 likely benign Congenital bile acid synthesis defect 4; Alpha-methylacyl-CoA racemase deficiency 2021-10-08 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000224095 SCV000801799 benign not provided 2017-08-17 no assertion criteria provided clinical testing

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