Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001247621 | SCV001421055 | uncertain significance | Glutamate formiminotransferase deficiency | 2019-10-29 | criteria provided, single submitter | clinical testing | 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. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with FTCD-related conditions. This variant is present in population databases (rs755340941, ExAC 0.1%). This sequence change replaces leucine with phenylalanine at codon 425 of the FTCD protein (p.Leu425Phe). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and phenylalanine. |
Ambry Genetics | RCV003294155 | SCV004002443 | uncertain significance | Inborn genetic diseases | 2023-05-03 | criteria provided, single submitter | clinical testing | The c.1273C>T (p.L425F) alteration is located in exon 11 (coding exon 11) of the FTCD gene. This alteration results from a C to T substitution at nucleotide position 1273, causing the leucine (L) at amino acid position 425 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |