ClinVar Miner

Submissions for variant NM_005981.5(TSPAN31):c.*1230A>G

dbSNP: rs786204045
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000167885 SCV000218531 uncertain significance Familial melanoma 2016-07-27 criteria provided, single submitter clinical testing In summary, this is a novel variant in the 3' UTR of CDK4 gene. Although there is no evidence to suggest that this sequence change affects either CDK4 mRNA or CDK4 protein function, the evidence is insufficient at this time to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance. This sequence change falls in the 3' untranslated region (3' UTR) of the CDK4 gene. It does not change the encoded amino acid sequence of the CDK4 protein. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a CDK4-related disease.

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