Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001945259 | SCV002190225 | uncertain significance | RFT1-congenital disorder of glycosylation | 2022-03-19 | 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with RFT1-related conditions. This variant is present in population databases (rs748400773, gnomAD 0.01%). This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 429 of the RFT1 protein (p.Val429Ala). |
Ambry Genetics | RCV002556389 | SCV003643133 | uncertain significance | Inborn genetic diseases | 2022-08-31 | criteria provided, single submitter | clinical testing | The c.1286T>C (p.V429A) alteration is located in exon 12 (coding exon 12) of the RFT1 gene. This alteration results from a T to C substitution at nucleotide position 1286, causing the valine (V) at amino acid position 429 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |