Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002007630 | SCV002266409 | uncertain significance | not provided | 2021-01-09 | criteria provided, single submitter | clinical testing | 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with ARFGEF2-related conditions. This variant is present in population databases (rs768063246, ExAC 0.001%). This sequence change replaces aspartic acid with valine at codon 1497 of the ARFGEF2 protein (p.Asp1497Val). The aspartic acid residue is weakly conserved and there is a large physicochemical difference between aspartic acid and valine. 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 | RCV003382766 | SCV004090631 | uncertain significance | Inborn genetic diseases | 2023-08-22 | criteria provided, single submitter | clinical testing | The c.4490A>T (p.D1497V) alteration is located in exon 33 (coding exon 33) of the ARFGEF2 gene. This alteration results from a A to T substitution at nucleotide position 4490, causing the aspartic acid (D) at amino acid position 1497 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |