ClinVar Miner

Submissions for variant NM_000075.4(CDK4):c.171G>A (p.Val57=)

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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. 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 (formerly Invitae), Labcorp 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.

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