ClinVar Miner

Submissions for variant NM_000075.4(CDK4):c.42_45del (p.Gly15fs)

dbSNP: rs2140388683
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002039625 SCV002107610 uncertain significance Familial melanoma 2022-10-08 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CDK4-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1350270). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly15Profs*22) in the CDK4 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in CDK4 cause disease.

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