Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000560454 | SCV000634941 | uncertain significance | Epileptic encephalopathy | 2021-09-01 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with tryptophan at codon 676 of the FASN protein (p.Arg676Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs759454700, ExAC 0.003%). This variant has not been reported in the literature in individuals affected with FASN-related conditions. 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"). 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 | RCV002527757 | SCV003603685 | uncertain significance | Inborn genetic diseases | 2021-12-13 | criteria provided, single submitter | clinical testing | The c.2026C>T (p.R676W) alteration is located in exon 13 (coding exon 12) of the FASN gene. This alteration results from a C to T substitution at nucleotide position 2026, causing the arginine (R) at amino acid position 676 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |