ClinVar Miner

Submissions for variant NM_000075.4(CDK4):c.279T>C (p.Phe93=)

gnomAD frequency: 0.00002  dbSNP: rs1478574297
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000566141 SCV000669097 likely benign Hereditary cancer-predisposing syndrome 2015-08-17 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000872457 SCV001014274 likely benign Familial melanoma 2025-01-31 criteria provided, single submitter clinical testing
GeneDx RCV003226950 SCV003923815 uncertain significance not provided 2023-05-01 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
Myriad Genetics, Inc. RCV004787934 SCV005405327 benign Melanoma, cutaneous malignant, susceptibility to, 3 2024-09-25 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.

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