ClinVar Miner

Submissions for variant NM_000075.4(CDK4):c.802G>A (p.Gly268Arg)

dbSNP: rs2140382669
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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 RCV002048645 SCV002304656 uncertain significance Familial melanoma 2021-03-11 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CDK4 protein function. This variant has not been reported in the literature in individuals with CDK4-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with arginine at codon 268 of the CDK4 protein (p.Gly268Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine.

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