ClinVar Miner

Submissions for variant NM_004035.7(ACOX1):c.1418C>T (p.Thr473Ile)

gnomAD frequency: 0.00031  dbSNP: rs200608977
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000513926 SCV000610307 uncertain significance not provided 2017-06-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001243242 SCV001416387 uncertain significance Acyl-CoA oxidase deficiency 2022-09-15 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 473 of the ACOX1 protein (p.Thr473Ile). This variant is present in population databases (rs200608977, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with ACOX1-related conditions. ClinVar contains an entry for this variant (Variation ID: 445693). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ACOX1 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV004023481 SCV004920409 uncertain significance Inborn genetic diseases 2024-02-12 criteria provided, single submitter clinical testing The c.1418C>T (p.T473I) alteration is located in exon 10 (coding exon 10) of the ACOX1 gene. This alteration results from a C to T substitution at nucleotide position 1418, causing the threonine (T) at amino acid position 473 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV000513926 SCV005412843 uncertain significance not provided 2023-08-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV001243242 SCV001463452 likely benign Acyl-CoA oxidase deficiency 2019-10-28 no assertion criteria provided clinical testing

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