Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics | RCV000516387 | SCV000612405 | uncertain significance | not specified | 2016-10-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002527455 | SCV003582942 | uncertain significance | Inborn genetic diseases | 2021-10-05 | criteria provided, single submitter | clinical testing | The c.3056G>A (p.R1019H) alteration is located in exon 22 (coding exon 22) of the ARFGEF2 gene. This alteration results from a G to A substitution at nucleotide position 3056, causing the arginine (R) at amino acid position 1019 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Invitae | RCV003766907 | SCV004638669 | uncertain significance | not provided | 2023-09-27 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1019 of the ARFGEF2 protein (p.Arg1019His). This variant is present in population databases (rs144322567, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with ARFGEF2-related conditions. ClinVar contains an entry for this variant (Variation ID: 446863). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. |