Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001284607 | SCV001470480 | uncertain significance | not provided | 2020-03-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001315876 | SCV001506470 | uncertain significance | Familial melanoma | 2021-12-07 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 993215). This variant has not been reported in the literature in individuals affected with CDK4-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 185 of the CDK4 protein (p.Val185Ile). |
Ambry Genetics | RCV002348863 | SCV002651688 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-03-14 | criteria provided, single submitter | clinical testing | The p.V185I variant (also known as c.553G>A), located in coding exon 4 of the CDK4 gene, results from a G to A substitution at nucleotide position 553. The valine at codon 185 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. 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. |
Center for Genomic Medicine, |
RCV002465861 | SCV002760597 | uncertain significance | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing |