ClinVar Miner

Submissions for variant NM_004064.5(CDKN1B):c.417C>G (p.Asp139Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004612321 SCV005105230 uncertain significance Hereditary cancer-predisposing syndrome 2024-06-08 criteria provided, single submitter clinical testing The p.D139E variant (also known as c.417C>G), located in coding exon 1 of the CDKN1B gene, results from a C to G substitution at nucleotide position 417. The aspartic acid at codon 139 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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