Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Wong Mito Lab, |
RCV001200711 | SCV001365106 | uncertain significance | Very long chain acyl-CoA dehydrogenase deficiency | 2019-11-01 | criteria provided, single submitter | clinical testing | The NM_000018.3:c.1382T>C (NP_000009.1:p.Phe461Ser) [GRCH38: NC_000017.11:g.7224017T>C] variant in ACADVL gene is interpretated to be Uncertain Significance based on ACMG guidelines (PMID: 25741868). This variant has been reported. This variant dose not meet any evidence codes reported in the ACMG guidelines. |
Invitae | RCV001200711 | SCV003476148 | uncertain significance | Very long chain acyl-CoA dehydrogenase deficiency | 2022-06-12 | criteria provided, single submitter | clinical testing | This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 461 of the ACADVL protein (p.Phe461Ser). This variant is present in population databases (rs755432945, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with ACADVL-related conditions. ClinVar contains an entry for this variant (Variation ID: 932770). 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 disruptive. 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. |
ARUP Laboratories, |
RCV001200711 | SCV004562640 | uncertain significance | Very long chain acyl-CoA dehydrogenase deficiency | 2023-09-20 | criteria provided, single submitter | clinical testing | The ACADVL c.1382T>C; p.Phe461Ser variant (rs755432945) is reported in the literature in a heterozygous individual assayed by newborn screen for inborn errors of metabolism (Adhikari 2020). This variant is reported in ClinVar (Variation ID: 932770). This variant is only observed on one allele in the Genome Aggregation Database, indicating it is not a common polymorphism. Computational analyses predict that this variant is deleterious (REVEL: 0.915). However, given the lack of clinical and functional data, the significance of this variant is uncertain at this time. References: Adhikari AN et al. The role of exome sequencing in newborn screening for inborn errors of metabolism. Nat Med. 2020 Sep;26(9):1392-1397. PMID: 32778825. |