ClinVar Miner

Submissions for variant NM_014324.6(AMACR):c.154T>C (p.Ser52Pro) (rs121917814)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727651 SCV000854950 pathogenic not provided 2018-06-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000005858 SCV000916102 pathogenic Alpha-methylacyl-CoA racemase deficiency 2017-09-25 criteria provided, single submitter clinical testing The AMACR c.154T>C (p.Ser52Pro) missense variant has been reported in a homozygous state in seven unrelated patients with alpha-methylacyl-CoA racemase deficiency, including six with adolescent or adult-onset symptoms and one infant with a severe congenital bile synthesis defect (Ferdinandusse et al. 2000; Setchell et. at. 2003; Clarke et al. 2004; Thompson et al. 2008; Smith et al. 2010; Dick et al. 2011). Four of these patients demonstrated absence of AMACR activity in cultured skin fibroblasts (Ferdinandusse et al. 2000; Clark et al. 2004; Thompson et al. 2008). The p.Ser52Pro variant was absent from 114 control alleles but is reported at a frequency of 0.001343 in the African population of the Exome Aggregation Consortium. The recombinant p.Ser52Pro variant protein expressed in E.coli was inactive (Ferdinandusse et al. 2000). Based on the evidence, the p.Ser52Pro variant is classified as pathogenic for alpha-methylacyl-CoA racemase deficiency. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
OMIM RCV000005858 SCV000026040 pathogenic Alpha-methylacyl-CoA racemase deficiency 2011-05-17 no assertion criteria provided literature only
OMIM RCV000005859 SCV000026041 pathogenic Bile acid synthesis defect, congenital, 4 2011-05-17 no assertion criteria provided literature only

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