Submissions for variant NM_004035.7(ACOX1):c.574C>A (p.Gln192Lys)

gnomAD frequency: 0.00019  dbSNP: rs200833797

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000970654	SCV001118244	likely benign	Acyl-CoA oxidase deficiency	2024-01-19	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000970654	SCV001283766	uncertain significance	Acyl-CoA oxidase deficiency	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.
Ambry Genetics	RCV004029954	SCV004918768	uncertain significance	Inborn genetic diseases	2021-08-12	criteria provided, single submitter	clinical testing	The c.574C>A (p.Q192K) alteration is located in exon 5 (coding exon 5) of the ACOX1 gene. This alteration results from a C to A substitution at nucleotide position 574, causing the glutamine (Q) at amino acid position 192 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc.	RCV000970654	SCV002091875	likely benign	Acyl-CoA oxidase deficiency	2020-01-21	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004553480	SCV004765133	likely benign	ACOX1-related disorder	2024-09-04	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).