ClinVar Miner

Submissions for variant NM_058195.4(CDKN2A):c.152G>C (p.Arg51Thr)

gnomAD frequency: 0.00003  dbSNP: rs1014358179
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000560036 SCV000637400 likely benign Familial melanoma 2022-10-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000570741 SCV000669178 uncertain significance Hereditary cancer-predisposing syndrome 2024-12-06 criteria provided, single submitter clinical testing The p.R51T variant (also known as c.152G>C), located in coding exon 1 of the CDKN2A (p14ARF) gene, results from a G to C substitution at nucleotide position 152. The arginine at codon 51 is replaced by threonine, an amino acid with similar 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. Based on the available evidence, the clinical significance of this variant remains unclear.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV002476140 SCV002774530 uncertain significance not provided 2021-08-04 criteria provided, single submitter clinical testing

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