ClinVar Miner

Submissions for variant NM_004064.5(CDKN1B):c.82G>T (p.Ala28Ser)

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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 RCV004516454 SCV005021778 uncertain significance Hereditary cancer-predisposing syndrome 2023-12-17 criteria provided, single submitter clinical testing The p.A28S variant (also known as c.82G>T), located in coding exon 1 of the CDKN1B gene, results from a G to T substitution at nucleotide position 82. The alanine at codon 28 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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