ClinVar Miner

Submissions for variant NM_058195.4(CDKN2A):c.28C>T (p.Arg10Trp)

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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 RCV002438041 SCV002750896 uncertain significance Hereditary cancer-predisposing syndrome 2021-04-19 criteria provided, single submitter clinical testing The p.R10W variant (also known as c.28C>T), located in coding exon 1 of the CDKN2A (p14ARF) gene, results from a C to T substitution at nucleotide position 28. The arginine at codon 10 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is highly 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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