ClinVar Miner

Submissions for variant NM_000077.5(CDKN2A):c.209C>G (p.Pro70Arg)

dbSNP: rs786202575
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165444 SCV000216173 uncertain significance Hereditary cancer-predisposing syndrome 2019-10-11 criteria provided, single submitter clinical testing The p.P70R variant (also known as c.209C>G), located in coding exon 2 of the CDKN2A gene, results from a C to G substitution at nucleotide position 209. The proline at codon 70 is replaced by arginine, an amino acid with dissimilar properties. This variant has been reported in a familial melanoma kindred (Soufir N et al, Br. J. Cancer 2004 Jan; 90(2):503-9). This amino acid position is well 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.