Description
This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 385 of the ACADVL protein (p.Arg385Trp). This variant is present in population databases (rs745832866, gnomAD 0.02%). This missense change has been observed in individual(s) with very long-chain acyl-CoA dehydrogenase deficiency (PMID: 23798014, 25655073, 28755359, 32655480). This variant is also known as R345W. ClinVar contains an entry for this variant (Variation ID: 193786). 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 with a positive predictive value of 95%. Experimental studies have shown that this missense change affects ACADVL function (PMID: 15210884). For these reasons, this variant has been classified as Pathogenic.
# | Sample | Method | Observation |
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Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences |
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1 | germline | unknown | not provided | not provided | not provided | | not provided | not provided | not provided | not provided |