Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156298 | SCV000206016 | likely benign | not specified | 2014-01-28 | criteria provided, single submitter | clinical testing | Val5838Ile in exon 81 of GPR98: This variant is not expected to have clinical si gnificance because the valine (Val) residue at position 5838 is not conserved ac ross species with several mammals (including primates) having an isoleucine (Ile ). |
Invitae | RCV001059912 | SCV001224566 | uncertain significance | not provided | 2022-07-09 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 5838 of the ADGRV1 protein (p.Val5838Ile). This variant is present in population databases (rs727504913, gnomAD 0.001%). 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: 179508). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The isoleucine 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. |