Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000179233 | SCV000231449 | uncertain significance | not provided | 2016-12-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001852231 | SCV002309626 | uncertain significance | Very long chain acyl-CoA dehydrogenase deficiency | 2021-07-14 | criteria provided, single submitter | clinical testing | 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. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This sequence change replaces glycine with cysteine at codon 143 of the ACADVL protein (p.Gly143Cys). The glycine residue is highly conserved and there is a large physicochemical difference between glycine and cysteine. 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 conditions. ClinVar contains an entry for this variant (Variation ID: 198027). |