ClinVar Miner

Submissions for variant NM_000077.5(CDKN2A):c.217G>C (p.Ala73Pro)

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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 RCV004952752 SCV005559303 uncertain significance Hereditary cancer-predisposing syndrome 2024-08-06 criteria provided, single submitter clinical testing The p.A73P variant (also known as c.217G>C), located in coding exon 2 of the CDKN2A gene, results from a G to C substitution at nucleotide position 217. The alanine at codon 73 is replaced by proline, an amino acid with highly similar properties. Of note, this alteration is also known as c.260G>T (p.R87P)in the p14(ARF) isoform. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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