Submissions for variant NM_014049.5(ACAD9):c.976G>A (p.Ala326Thr)

gnomAD frequency: 0.02662  dbSNP: rs115532916

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000123467	SCV000166804	benign	not specified	2012-07-20	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.
Illumina Laboratory Services, Illumina	RCV000395019	SCV000440761	benign	Acyl-CoA dehydrogenase 9 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000395019	SCV000602348	benign	Acyl-CoA dehydrogenase 9 deficiency	2023-10-23	criteria provided, single submitter	clinical testing
SIB Swiss Institute of Bioinformatics	RCV000395019	SCV000803452	uncertain significance	Acyl-CoA dehydrogenase 9 deficiency	2018-05-31	criteria provided, single submitter	curation	This variant is interpreted as of Uncertain Significance - Conflicting Evidence, for Mitochondrial complex I deficiency due to ACAD9 deficiency, autosomal recessive. The following ACMG Tag(s) were applied: PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product. BS1 => Allele frequency is greater than expected for disorder. BS2 => Observed in a healthy adult individual for a recessive (homozygous), dominant (heterozygous), or X-linked (hemizygous) disorder, with full penetrance expected at an early age.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000676686	SCV001718137	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000395019	SCV001737168	benign	Acyl-CoA dehydrogenase 9 deficiency	2021-05-18	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000123467	SCV002050974	likely benign	not specified	2021-12-10	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000676686	SCV000802482	benign	not provided	2017-10-31	no assertion criteria provided	clinical testing
Natera, Inc.	RCV000395019	SCV001461498	benign	Acyl-CoA dehydrogenase 9 deficiency	2020-09-16	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000123467	SCV001744921	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000123467	SCV001928230	benign	not specified		no assertion criteria provided	clinical testing