ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.526A>C (p.Ile176Leu)

dbSNP: rs1300720825
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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 RCV001326138 SCV001517152 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with leucine at codon 176 of the ACADVL protein (p.Ile176Leu). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and leucine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with a positive newborn screening result for ACADVL-related disease (Invitae). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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