ClinVar Miner

Submissions for variant NM_058195.4(CDKN2A):c.100T>A (p.Trp34Arg)

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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 RCV004612352 SCV005105277 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-29 criteria provided, single submitter clinical testing The p.W34R variant (also known as c.100T>A), located in coding exon 1 of the CDKN2A gene, results from a T to A substitution at nucleotide position 100. The tryptophan at codon 34 is replaced by arginine, an amino acid with dissimilar 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. Based on the available evidence, the clinical significance of this variant remains unclear.

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