ClinVar Miner

Submissions for variant NM_000075.4(CDK4):c.660C>T (p.Ala220=)

gnomAD frequency: 0.00001  dbSNP: rs773490152
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000444536 SCV000529401 likely benign not specified 2016-06-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001079972 SCV000559058 likely benign Familial melanoma 2024-01-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV000569290 SCV000673185 likely benign Hereditary cancer-predisposing syndrome 2015-07-23 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003477926 SCV000889269 likely benign not provided 2023-06-23 criteria provided, single submitter clinical testing
Mendelics RCV000988868 SCV001138762 likely benign Melanoma, cutaneous malignant, susceptibility to, 3 2019-05-28 criteria provided, single submitter clinical testing

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