Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000194749 | SCV000246458 | uncertain significance | not specified | 2015-06-23 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000710612 | SCV000341517 | uncertain significance | not provided | 2016-05-17 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000710612 | SCV000840855 | uncertain significance | not provided | 2018-01-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000710612 | SCV001987978 | uncertain significance | not provided | 2020-02-27 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Laboratorio de Genetica e Diagnostico Molecular, |
RCV002252043 | SCV002523460 | uncertain significance | See cases | 2020-01-16 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PM2, BP4 |
Invitae | RCV000710612 | SCV002962500 | uncertain significance | not provided | 2022-09-27 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 58 of the ARFGEF2 protein (p.Pro58Ser). This variant is present in population databases (rs149471454, gnomAD 0.06%). 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: 210226). 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. 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. |