ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.891G>C (p.Glu297Asp)

dbSNP: rs2071287588
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001886955 SCV002167425 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2021-10-24 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with aspartic acid at codon 297 of the ACADVL protein (p.Glu297Asp). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and aspartic acid. This variant is not present in population databases (ExAC no frequency). 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 disruptive. 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.

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