Submissions for variant NM_014324.6(AMACR):c.844G>C (p.Glu282Gln)

gnomAD frequency: 0.00014  dbSNP: rs181341030

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000194266	SCV000246366	uncertain significance	not specified	2014-06-13	criteria provided, single submitter	clinical testing
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	RCV000490396	SCV000267210	uncertain significance	Mitochondrial complex I deficiency	2016-03-18	criteria provided, single submitter	reference population
Eurofins Ntd Llc (ga)	RCV000194266	SCV000856408	likely benign	not specified	2017-08-23	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000765838	SCV000897233	uncertain significance	Congenital bile acid synthesis defect 4; Alpha-methylacyl-CoA racemase deficiency	2018-10-31	criteria provided, single submitter	clinical testing
Invitae	RCV000894738	SCV001038741	likely benign	Alpha-methylacyl-CoA racemase deficiency	2024-01-25	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000894738	SCV001315483	likely benign	Alpha-methylacyl-CoA racemase deficiency	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
PreventionGenetics, part of Exact Sciences	RCV003927756	SCV004743614	likely benign	AMACR-related condition	2020-01-08	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).