Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000815341 | SCV000955790 | uncertain significance | Very long chain acyl-CoA dehydrogenase deficiency | 2018-09-02 | criteria provided, single submitter | clinical testing | This sequence change replaces lysine with arginine at codon 299 of the ACADVL protein (p.Lys299Arg). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ACADVL-related disease. Experimental studies have shown that this missense change abolishes enzyme activity (PMID: 25811481). 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. |