Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Myriad Genetics, |
RCV004787586 | SCV005403938 | benign | Melanoma, cutaneous malignant, susceptibility to, 3 | 2024-09-24 | criteria provided, single submitter | clinical testing | This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing. |
Labcorp Genetics |
RCV005105081 | SCV005795586 | uncertain significance | Familial melanoma | 2024-09-27 | criteria provided, single submitter | clinical testing | This sequence change affects codon 57 of the CDK4 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CDK4 protein. This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with CDK4-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. |