Submissions for variant NM_000016.6(ACADM):c.1161A>G (p.Val387=)

gnomAD frequency: 0.23824  dbSNP: rs1061337

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000077878	SCV000109707	benign	not specified	2015-09-14	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000077878	SCV000301493	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000327270	SCV000358944	benign	Medium-chain acyl-coenzyme A dehydrogenase deficiency	2018-01-12	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.
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000077878	SCV000600031	benign	not specified	2017-07-19	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000327270	SCV000884946	benign	Medium-chain acyl-coenzyme A dehydrogenase deficiency	2023-11-22	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000077878	SCV001652976	benign	not specified	2021-03-17	criteria provided, single submitter	clinical testing	The p.Val391Val variant in ACADM is not expected to have clinical significance because it has been identified in 29% (37908/128544) of European chromosomes, including 5448 homozygotes, by gnomAD (http://gnomad.broadinstitute.org).
Labcorp Genetics (formerly Invitae), Labcorp	RCV000327270	SCV001733019	benign	Medium-chain acyl-coenzyme A dehydrogenase deficiency	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000327270	SCV001750351	benign	Medium-chain acyl-coenzyme A dehydrogenase deficiency	2021-07-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001705719	SCV001881876	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 23810226)
Breakthrough Genomics, Breakthrough Genomics	RCV001705719	SCV005280888	benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV000327270	SCV001190616	benign	Medium-chain acyl-coenzyme A dehydrogenase deficiency	2019-05-20	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000077878	SCV001978531	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000077878	SCV001979515	benign	not specified		no assertion criteria provided	clinical testing