Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001202514 | SCV001373627 | uncertain significance | Epileptic encephalopathy | 2023-11-16 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 1120 of the FASN protein (p.Thr1120Ile). This variant is present in population databases (no rsID available, gnomAD 0.002%). 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: 934171). 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 tolerated. 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 | RCV002561102 | SCV003648776 | uncertain significance | Inborn genetic diseases | 2022-09-26 | criteria provided, single submitter | clinical testing | The c.3359C>T (p.T1120I) alteration is located in exon 21 (coding exon 20) of the FASN gene. This alteration results from a C to T substitution at nucleotide position 3359, causing the threonine (T) at amino acid position 1120 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |