ClinVar Miner

Submissions for variant NM_004064.5(CDKN1B):c.289G>T (p.Gly97Cys)

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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 RCV002438030 SCV002746804 uncertain significance Hereditary cancer-predisposing syndrome 2021-08-13 criteria provided, single submitter clinical testing The p.G97C variant (also known as c.289G>T), located in coding exon 1 of the CDKN1B gene, results from a G to T substitution at nucleotide position 289. The glycine at codon 97 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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