Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000824536 | SCV000965437 | uncertain significance | Glutamate formiminotransferase deficiency | 2021-08-30 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine with valine at codon 455 of the FTCD protein (p.Ala455Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs61735840, ExAC 0.2%). This variant has not been reported in the literature in individuals affected with FTCD-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: "Deleterious"; PolyPhen-2: "Benign"; 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. |
| Ambry Genetics | RCV002536028 | SCV003716965 | uncertain significance | Inborn genetic diseases | 2022-05-06 | criteria provided, single submitter | clinical testing | The c.1364C>T (p.A455V) alteration is located in exon 12 (coding exon 12) of the FTCD gene. This alteration results from a C to T substitution at nucleotide position 1364, causing the alanine (A) at amino acid position 455 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |