ClinVar Miner

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

gnomAD frequency: 0.00019  dbSNP: rs200833797
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae 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.
PreventionGenetics, part of Exact Sciences RCV003936101 SCV004765133 likely benign ACOX1-related condition 2022-03-15 criteria provided, single submitter 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).
Natera, Inc. RCV000970654 SCV002091875 likely benign Acyl-CoA oxidase deficiency 2020-01-21 no assertion criteria provided clinical testing

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