Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
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. |