ClinVar Miner

Submissions for variant NM_000075.4(CDK4):c.553G>A (p.Val185Ile)

gnomAD frequency: 0.00001  dbSNP: rs757302656
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Total submissions: 4
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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, Rigshospitalet, Copenhagen University Hospital RCV002465861 SCV002760597 uncertain significance not specified 2023-08-15 criteria provided, single submitter clinical testing

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