ClinVar Miner

Submissions for variant NM_000075.4(CDK4):c.633-10C>G

dbSNP: rs1555201136
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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 RCV000638982 SCV000760540 likely benign Familial melanoma 2024-07-15 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001816587 SCV002068056 uncertain significance not specified 2020-04-21 criteria provided, single submitter clinical testing DNA sequence analysis of the CDK4 gene demonstrated a sequence change in intron 5, c.633-10C>G. This change does not appear to have been previously described in patients with CDK4-related disorders and has also not been described in population databases (gnomAD, ExAC). This sequence change is not clearly predicted to have a deleterious effect on splicing based on in silico splice prediction programs. It is possible that this sequence change represents a benign sequence change in the CDK4 gene that has not been identified to date. The functional significance of this sequence change is not known at present and its contribution to this patient's disease phenotype cannot definitively be determined.

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