ClinVar Miner

Submissions for variant NM_000075.4(CDK4):c.848G>C (p.Arg283Pro)

dbSNP: rs1595107806
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001363026 SCV001559104 uncertain significance Familial melanoma 2020-06-13 criteria provided, single submitter clinical testing This sequence change replaces arginine with proline at codon 283 of the CDK4 protein (p.Arg283Pro). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and proline. This variant is not present in population databases (ExAC no frequency). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with CDK4-related conditions.

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