ClinVar Miner

Submissions for variant NM_003500.4(ACOX2):c.143C>A (p.Ala48Glu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002993813 SCV003290559 uncertain significance not provided 2022-10-07 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 48 of the ACOX2 protein (p.Ala48Glu). This variant is present in population databases (rs752030551, gnomAD 0.1%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with ACOX2-related conditions. 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 ACOX2 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 RCV004065191 SCV003703234 uncertain significance not specified 2021-08-28 criteria provided, single submitter clinical testing The c.143C>A (p.A48E) alteration is located in exon 2 (coding exon 1) of the ACOX2 gene. This alteration results from a C to A substitution at nucleotide position 143, causing the alanine (A) at amino acid position 48 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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