ClinVar Miner

Submissions for variant NM_014324.6(AMACR):c.25G>A (p.Val9Met)

gnomAD frequency: 0.42007  dbSNP: rs3195676
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000318434 SCV000457133 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 RCV000116320 SCV000517521 benign not specified 2016-01-06 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.
Eurofins Ntd Llc (ga) RCV000116320 SCV000855814 benign not specified 2017-07-18 criteria provided, single submitter clinical testing
Invitae RCV000318434 SCV001725373 benign Alpha-methylacyl-CoA racemase deficiency 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000318434 SCV001769230 benign Alpha-methylacyl-CoA racemase deficiency 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001549130 SCV001769231 benign Congenital bile acid synthesis defect 4 2021-07-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116320 SCV000150241 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 RCV000676071 SCV000801806 benign not provided 2015-10-22 no assertion criteria provided clinical testing

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