ClinVar Miner

Submissions for variant NM_000077.5(CDKN2A):c.145A>G (p.Ile49Val)

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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 RCV004952767 SCV005559330 uncertain significance Hereditary cancer-predisposing syndrome 2024-12-05 criteria provided, single submitter clinical testing The p.I49V variant (also known as c.145A>G), located in coding exon 1 of the CDKN2A gene, results from an A to G substitution at nucleotide position 145. The isoleucine at codon 49 is replaced by valine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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