Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000150785 | SCV000198286 | likely benign | not specified | 2013-11-22 | criteria provided, single submitter | clinical testing | Val4589Met in exon 68 of GPR98: This variant is not expected to have clinical si gnificance because the valine (Val) residue at position 4589 is poorly conserve d across species, with several species (pig, cow, and hedgehog) having a methion ine (Met) at this position. In addition, computational tools predict that the va riant may not impact the protein. |
Invitae | RCV001048288 | SCV001212283 | uncertain significance | not provided | 2022-08-19 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 4589 of the ADGRV1 protein (p.Val4589Met). This variant is not present in population databases (gnomAD no frequency). 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: 163616). 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 methionine 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. |
Gene |
RCV001048288 | SCV002097472 | uncertain significance | not provided | 2022-02-01 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Athena Diagnostics Inc | RCV001048288 | SCV002771276 | uncertain significance | not provided | 2022-09-15 | criteria provided, single submitter | clinical testing | Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity (http://gnomad.broadinstitute.org). Computational tools predict that this variant is not damaging. |