Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000685313 | SCV000812791 | uncertain significance | Epileptic encephalopathy | 2023-07-25 | criteria provided, single submitter | clinical testing | The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 2185 of the FASN protein (p.Arg2185Trp). This variant has not been reported in the literature in individuals affected with FASN-related conditions. 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. 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. ClinVar contains an entry for this variant (Variation ID: 565692). |
| Ambry Genetics | RCV002544713 | SCV003733997 | uncertain significance | Inborn genetic diseases | 2022-05-27 | criteria provided, single submitter | clinical testing | The c.6553C>T (p.R2185W) alteration is located in exon 38 (coding exon 37) of the FASN gene. This alteration results from a C to T substitution at nucleotide position 6553, causing the arginine (R) at amino acid position 2185 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |