ClinVar Miner

Submissions for variant NM_000075.4(CDK4):c.549C>T (p.Pro183=)

gnomAD frequency: 0.00003  dbSNP: rs778696237
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166464 SCV000217261 likely benign Hereditary cancer-predisposing syndrome 2014-10-31 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Counsyl RCV000412280 SCV000488850 likely benign Melanoma, cutaneous malignant, susceptibility to, 3 2016-07-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001082578 SCV000559053 likely benign Familial melanoma 2025-01-23 criteria provided, single submitter clinical testing
GeneDx RCV000613863 SCV000729564 likely benign not specified 2017-04-04 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759739 SCV000889268 benign not provided 2022-12-21 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000613863 SCV002555778 likely benign not specified 2022-06-09 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000412280 SCV004020062 benign Melanoma, cutaneous malignant, susceptibility to, 3 2023-03-07 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.
True Health Diagnostics RCV000166464 SCV000787989 likely benign Hereditary cancer-predisposing syndrome 2017-12-08 no assertion criteria provided clinical testing

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