Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001213893 | SCV001385546 | uncertain significance | Epileptic encephalopathy | 2019-05-18 | criteria provided, single submitter | clinical testing | 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with FASN-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with cysteine at codon 2087 of the FASN protein (p.Arg2087Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. 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. |
| Ambry Genetics | RCV004033915 | SCV003603843 | uncertain significance | not specified | 2021-12-20 | criteria provided, single submitter | clinical testing | The c.6259C>T (p.R2087C) alteration is located in exon 37 (coding exon 36) of the FASN gene. This alteration results from a C to T substitution at nucleotide position 6259, causing the arginine (R) at amino acid position 2087 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |