Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV003010328 | SCV003314965 | uncertain significance | RFT1-congenital disorder of glycosylation | 2022-07-29 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RFT1-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: "Tolerated"; PolyPhen-2: "Possibly 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. This sequence change replaces tryptophan, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 244 of the RFT1 protein (p.Trp244Arg). |
| Ambry Genetics | RCV004068559 | SCV004939489 | uncertain significance | Inborn genetic diseases | 2024-02-05 | criteria provided, single submitter | clinical testing | The c.730T>A (p.W244R) alteration is located in exon 7 (coding exon 7) of the RFT1 gene. This alteration results from a T to A substitution at nucleotide position 730, causing the tryptophan (W) at amino acid position 244 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |