ClinVar Miner

Submissions for variant NM_000075.4(CDK4):c.126A>G (p.Gly42=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV004791938 SCV005405048 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 (formerly Invitae), Labcorp RCV005105087 SCV005781618 uncertain significance Familial melanoma 2024-02-11 criteria provided, single submitter clinical testing This sequence change affects codon 42 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 not present in population databases (gnomAD no frequency). 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 disrupt the consensus 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.

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