Submissions for variant NM_000017.4(ACADS):c.511C>T (p.Arg171Trp)

gnomAD frequency: 0.03280  dbSNP: rs1800556

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000185683	SCV000238604	benign	not provided	2018-01-04	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 29555771, 29678161, 28532786, 18523805, 9499414, 11134486, 16926354, 12220177)
Illumina Laboratory Services, Illumina	RCV000004034	SCV000376679	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000004034	SCV000602350	benign	Deficiency of butyryl-CoA dehydrogenase	2023-11-27	criteria provided, single submitter	clinical testing
Invitae	RCV000004034	SCV000632508	benign	Deficiency of butyryl-CoA dehydrogenase	2019-12-30	criteria provided, single submitter	clinical testing
Mendelics	RCV000004034	SCV001138837	benign	Deficiency of butyryl-CoA dehydrogenase	2023-08-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000004034	SCV002033243	benign	Deficiency of butyryl-CoA dehydrogenase	2021-11-07	criteria provided, single submitter	clinical testing
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	RCV000004034	SCV002768997	likely benign	Deficiency of butyryl-CoA dehydrogenase	2022-02-02	criteria provided, single submitter	clinical testing	Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as likely benign. Following criteria are met: 0308 - Population frequency for this variant is out of keeping with known incidence of acyl-CoA dehydrogenase, short-chain, deficiency of (MIM#201470). (SB) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign
OMIM	RCV000004034	SCV000024200	pathogenic	Deficiency of butyryl-CoA dehydrogenase	2001-01-01	no assertion criteria provided	literature only
GeneReviews	RCV000004034	SCV000188413	not provided	Deficiency of butyryl-CoA dehydrogenase		no assertion provided	literature only
GenomeConnect, ClinGen	RCV000004034	SCV000606902	not provided	Deficiency of butyryl-CoA dehydrogenase		no assertion provided	phenotyping only	The variant was identified in multiple GenomeConnect participants. Variant interpreted as Uncertain significance and reported on 05-17-2017 by Lab or GTR ID 303161. Variant was interpreted as Pathogenic and reported on 10-02-2015 by Lab or GTR ID 26957. 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.