Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001069688 | SCV001234875 | uncertain significance | Epileptic encephalopathy | 2021-10-05 | 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 tolerated. This variant has not been reported in the literature in individuals affected with FASN-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with leucine at codon 616 of the FASN protein (p.Pro616Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. |