ClinVar Miner

Submissions for variant NM_000075.4(CDK4):c.652T>A (p.Ser218Thr)

dbSNP: rs1955206277
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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 RCV001318941 SCV001509663 uncertain significance Familial melanoma 2020-05-14 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with threonine at codon 218 of the CDK4 protein (p.Ser218Thr). The serine residue is highly conserved and there is a small physicochemical difference between serine and threonine. This variant has not been reported in the literature in individuals with CDK4-related conditions. 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 C55"). 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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