ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.1238T>C (p.Ile413Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003474375 SCV004210922 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2023-09-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003474375 SCV004613719 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2023-09-08 criteria provided, single submitter clinical testing 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 expected to disrupt ACADVL protein function. This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 413 of the ACADVL protein (p.Ile413Thr). This variant is present in population databases (rs775980475, gnomAD 0.0009%). This missense change has been observed in individual(s) with very long-chain acyl-CoA dehydrogenase deficiency (PMID: 30950014, 35281659). Experimental studies have shown that this missense change affects ACADVL function (PMID: 33150772). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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