ClinVar Miner

Submissions for variant NM_000077.5(CDKN2A):c.331G>T (p.Gly111Cys)

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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 RCV003387337 SCV004098327 uncertain significance Hereditary cancer-predisposing syndrome 2023-08-15 criteria provided, single submitter clinical testing The p.G111C variant (also known as c.331G>T), located in coding exon 2 of the CDKN2A gene, results from a G to T substitution at nucleotide position 331. The glycine at codon 111 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is well conserved in available vertebrate species. 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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