ClinVar Miner

Submissions for variant NM_058195.4(CDKN2A):c.79A>G (p.Ile27Val)

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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 RCV002419133 SCV002678609 uncertain significance Hereditary cancer-predisposing syndrome 2022-05-06 criteria provided, single submitter clinical testing The p.I27V variant (also known as c.79A>G), located in coding exon 1 of the CDKN2A (p14ARF) gene, results from an A to G substitution at nucleotide position 79. The isoleucine at codon 27 is replaced by valine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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