ClinVar Miner

Submissions for variant NM_000075.4(CDK4):c.345A>C (p.Glu115Asp)

gnomAD frequency: 0.00001  dbSNP: rs769378936
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001226442 SCV001398755 uncertain significance Familial melanoma 2024-02-27 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 115 of the CDK4 protein (p.Glu115Asp). This variant is present in population databases (rs769378936, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with CDK4-related conditions. ClinVar contains an entry for this variant (Variation ID: 954054). 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 not expected to disrupt CDK4 protein function with a negative predictive value of 95%. 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV002480745 SCV002774521 uncertain significance not provided 2021-08-10 criteria provided, single submitter clinical testing

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