Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000150770 | SCV000198261 | likely benign | not specified | 2013-06-21 | criteria provided, single submitter | clinical testing | Ile3356Val in exon 48 of GPR98: This variant is not expected to have clinical si gnificance due to a lack of conservation across species, including mammals. Of n ote, rhesus, baboon, rat and horse have a valine (Val) at this position despite high nearby amino acid conservation. |
Eurofins Ntd Llc |
RCV000732465 | SCV000860428 | uncertain significance | not provided | 2018-04-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000732465 | SCV002116769 | uncertain significance | not provided | 2021-12-06 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 3356 of the ADGRV1 protein (p.Ile3356Val). This variant is present in population databases (rs727503078, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with ADGRV1-related conditions. ClinVar contains an entry for this variant (Variation ID: 163593). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. |