ClinVar Miner

Submissions for variant NM_014324.6(AMACR):c.602T>C (p.Leu201Ser)

gnomAD frequency: 0.73966  dbSNP: rs2287939
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000276161 SCV000457129 benign Alpha-methylacyl-CoA racemase deficiency 2018-03-06 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 RCV000116322 SCV000512020 benign not specified 2015-12-23 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 RCV000276161 SCV001726732 benign Alpha-methylacyl-CoA racemase deficiency 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000276161 SCV001769226 benign Alpha-methylacyl-CoA racemase deficiency 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001549128 SCV001769227 benign Congenital bile acid synthesis defect 4 2021-07-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116322 SCV000150243 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.
Mayo Clinic Laboratories, Mayo Clinic RCV000676067 SCV000801802 benign not provided 2015-10-22 no assertion criteria provided clinical testing

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