ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.1664A>G (p.Lys555Arg)

gnomAD frequency: 0.00001  dbSNP: rs1231882461
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001233819 SCV001406432 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 555 of the ACADVL protein (p.Lys555Arg). The lysine residue is moderately 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 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 tolerated. 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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