ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.385G>A (p.Glu129Lys)

gnomAD frequency: 0.00001  dbSNP: rs1402849815
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593991 SCV000707626 uncertain significance not provided 2017-04-21 criteria provided, single submitter clinical testing
Invitae RCV001346101 SCV001540274 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2021-08-13 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 129 of the ACADVL protein (p.Glu129Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. 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). ClinVar contains an entry for this variant (Variation ID: 501312). 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: "Tolerated"; 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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