ClinVar Miner

Submissions for variant NM_004064.5(CDKN1B):c.381C>A (p.Asp127Glu)

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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 RCV002355301 SCV002619932 uncertain significance Hereditary cancer-predisposing syndrome 2022-10-29 criteria provided, single submitter clinical testing The p.D127E variant (also known as c.381C>A), located in coding exon 1 of the CDKN1B gene, results from a C to A substitution at nucleotide position 381. The aspartic acid at codon 127 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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