Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001360582 | SCV001556507 | uncertain significance | Epileptic encephalopathy | 2020-09-01 | criteria provided, single submitter | clinical testing | 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. This variant has not been reported in the literature in individuals with FASN-related conditions. This variant is present in population databases (rs765227044, ExAC 0.002%). This sequence change replaces glycine with arginine at codon 1466 of the FASN protein (p.Gly1466Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. |