Submissions for variant NM_000017.4(ACADS):c.669G>A (p.Thr223=)

gnomAD frequency: 0.00056  dbSNP: rs17848089

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001111594	SCV001269162	uncertain significance	Deficiency of butyryl-CoA dehydrogenase	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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Genome-Nilou Lab	RCV001111594	SCV002033248	likely benign	Deficiency of butyryl-CoA dehydrogenase	2021-11-07	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001111594	SCV002380925	likely benign	Deficiency of butyryl-CoA dehydrogenase	2022-10-05	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003925950	SCV004754045	likely benign	ACADS-related disorder	2023-08-30	no assertion criteria provided	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).