Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000596932 | SCV000709045 | uncertain significance | not provided | 2017-06-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000803813 | SCV000943699 | uncertain significance | Glutamate formiminotransferase deficiency | 2022-06-14 | 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"). ClinVar contains an entry for this variant (Variation ID: 502351). This variant has not been reported in the literature in individuals affected with FTCD-related conditions. This variant is present in population databases (rs199867833, gnomAD 0.005%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 66 of the FTCD protein (p.Ala66Val). |