ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.142G>A (p.Ala48Thr)

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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 RCV002635165 SCV002961209 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2022-04-11 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 48 of the ACADVL protein (p.Ala48Thr). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with ACADVL-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV004065910 SCV004915355 uncertain significance Inborn genetic diseases 2023-10-20 criteria provided, single submitter clinical testing The c.142G>A (p.A48T) alteration is located in exon 3 (coding exon 3) of the ACADVL gene. This alteration results from a G to A substitution at nucleotide position 142, causing the alanine (A) at amino acid position 48 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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