Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000698630 | SCV000827308 | uncertain significance | Epileptic encephalopathy | 2024-01-09 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 571 of the FASN protein (p.Gly571Glu). This variant is present in population databases (rs143978140, gnomAD 0.07%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with FASN-related conditions. ClinVar contains an entry for this variant (Variation ID: 576195). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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 | RCV002533533 | SCV003686406 | uncertain significance | Inborn genetic diseases | 2022-01-05 | criteria provided, single submitter | clinical testing | The c.1712G>A (p.G571E) alteration is located in exon 11 (coding exon 10) of the FASN gene. This alteration results from a G to A substitution at nucleotide position 1712, causing the glycine (G) at amino acid position 571 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |