Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000192859 | SCV000249431 | uncertain significance | not specified | 2015-01-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000529446 | SCV000639686 | uncertain significance | Pontocerebellar hypoplasia type 1A | 2022-08-07 | 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 384 of the VRK1 protein (p.Ile384Val). This variant is present in population databases (rs147604836, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with VRK1-related conditions. ClinVar contains an entry for this variant (Variation ID: 212586). 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. |
Gene |
RCV001545092 | SCV001764354 | uncertain significance | not provided | 2019-04-12 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014) |
Ambry Genetics | RCV002453714 | SCV002614263 | uncertain significance | Inborn genetic diseases | 2022-05-03 | criteria provided, single submitter | clinical testing | The p.I384V variant (also known as c.1150A>G), located in coding exon 11 of the VRK1 gene, results from an A to G substitution at nucleotide position 1150. The isoleucine at codon 384 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001272569 | SCV001454666 | uncertain significance | Congenital pontocerebellar hypoplasia type 1 | 2020-04-18 | no assertion criteria provided | clinical testing |