Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001342807 | SCV001536754 | uncertain significance | Epileptic encephalopathy | 2020-03-14 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine with aspartic acid at codon 1430 of the FASN protein (p.Gly1430Asp). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is present in population databases (rs562361621, ExAC 0.1%). This variant has not been reported in the literature in individuals with FASN-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The aspartic acid amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. 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. |
| Ambry Genetics | RCV004036375 | SCV003937716 | uncertain significance | not specified | 2023-05-03 | criteria provided, single submitter | clinical testing | The c.4289G>A (p.G1430D) alteration is located in exon 25 (coding exon 24) of the FASN gene. This alteration results from a G to A substitution at nucleotide position 4289, causing the glycine (G) at amino acid position 1430 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |