ClinVar Miner

Submissions for variant NM_000075.4(CDK4):c.639C>A (p.Leu213=)

dbSNP: rs2140383965
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001733423 SCV001983756 likely benign not specified 2021-09-16 criteria provided, single submitter clinical testing Variant summary: CDK4 c.639C>A alters a conserved nucleotide resulting in a synonymous change. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 251454 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.639C>A in individuals affected with Cutaneous Malignant Melanoma and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely benign.
Myriad Genetics, Inc. RCV004785294 SCV005405770 benign Melanoma, cutaneous malignant, susceptibility to, 3 2024-09-26 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV005094913 SCV005740640 likely benign Familial melanoma 2024-02-12 criteria provided, single submitter clinical testing

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