ClinVar Miner

Submissions for variant NM_004064.5(CDKN1B):c.243G>T (p.Lys81Asn)

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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 RCV004612336 SCV005105253 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-22 criteria provided, single submitter clinical testing The p.K81N variant (also known as c.243G>T), located in coding exon 1 of the CDKN1B gene, results from a G to T substitution at nucleotide position 243. The lysine at codon 81 is replaced by asparagine, an amino acid with 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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