ClinVar Miner

Submissions for variant NM_004035.7(ACOX1):c.1368C>T (p.Asn456=)

gnomAD frequency: 0.00147  dbSNP: rs151255626
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000296679 SCV000406793 uncertain significance Acyl-CoA oxidase 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000296679 SCV001116389 benign Acyl-CoA oxidase deficiency 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003418024 SCV004144277 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing ACOX1: BP4, BP7
Natera, Inc. RCV000296679 SCV002089512 benign Acyl-CoA oxidase deficiency 2019-10-28 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004737442 SCV005345346 likely benign ACOX1-related disorder 2024-05-15 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).

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