Submissions for variant NM_000017.4(ACADS):c.625G>A (p.Gly209Ser)

gnomAD frequency: 0.20997  dbSNP: rs1799958

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000077896	SCV000109725	benign	not specified	2013-04-16	criteria provided, single submitter	clinical testing
GeneDx	RCV000185685	SCV000238606	benign	not provided	2018-01-04	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	RCV000004035	SCV000376683	benign	Deficiency of butyryl-CoA dehydrogenase	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.
Genomic Research Center, Shahid Beheshti University of Medical Sciences	RCV000077896	SCV000746501	benign	not specified	2019-01-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000004035	SCV000756747	benign	Deficiency of butyryl-CoA dehydrogenase	2019-12-31	criteria provided, single submitter	clinical testing
Mendelics	RCV000004035	SCV001138838	likely benign	Deficiency of butyryl-CoA dehydrogenase	2019-05-28	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000004035	SCV001156791	benign	Deficiency of butyryl-CoA dehydrogenase	2023-11-29	criteria provided, single submitter	clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV000185685	SCV002010900	benign	not provided	2021-11-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000185685	SCV003917249	benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000077896	SCV004813183	likely benign	not specified	2024-02-09	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000185685	SCV005218928	likely benign	not provided		criteria provided, single submitter	not provided
Ambry Genetics	RCV004965259	SCV005521996	likely benign	Inborn genetic diseases	2024-08-30	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
OMIM	RCV000004035	SCV000024201	pathogenic	Deficiency of butyryl-CoA dehydrogenase	2001-01-01	no assertion criteria provided	literature only
GeneReviews	RCV000004035	SCV000188414	not provided	Deficiency of butyryl-CoA dehydrogenase		no assertion provided	literature only
GenomeConnect, ClinGen	RCV000004035	SCV000606903	not provided	Deficiency of butyryl-CoA dehydrogenase		no assertion provided	phenotyping only	GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
GenomeConnect - Invitae Patient Insights Network	RCV000185685	SCV001749956	not provided	not provided		no assertion provided	phenotyping only	Variant interpreted as Benign and reported on 08-28-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.