ClinVar Miner

Submissions for variant NM_004064.5(CDKN1B):c.290G>A (p.Gly97Asp)

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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 RCV003177204 SCV003859182 uncertain significance Hereditary cancer-predisposing syndrome 2023-01-28 criteria provided, single submitter clinical testing The p.G97D variant (also known as c.290G>A), located in coding exon 1 of the CDKN1B gene, results from a G to A substitution at nucleotide position 290. The glycine at codon 97 is replaced by aspartic acid, 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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