ClinVar Miner

Submissions for variant NM_000077.5(CDKN2A):c.166A>G (p.Ser56Gly)

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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 RCV003306239 SCV003995602 uncertain significance Hereditary cancer-predisposing syndrome 2023-04-20 criteria provided, single submitter clinical testing The p.S56G variant (also known as c.166A>G), located in coding exon 2 of the CDKN2A gene, results from an A to G substitution at nucleotide position 166. The serine at codon 56 is replaced by glycine, an amino acid with similar properties. This amino acid position is not 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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