ClinVar Miner

Submissions for variant NM_058195.4(CDKN2A):c.146T>C (p.Leu49Pro)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002396910 SCV002697505 uncertain significance Hereditary cancer-predisposing syndrome 2024-08-26 criteria provided, single submitter clinical testing The p.L49P variant (also known as c.146T>C), located in coding exon 1 of the CDKN2A gene, results from a T to C substitution at nucleotide position 146 of the p14 protein-encoding isoform. The leucine at codon 49 is replaced by proline, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Clinical Genetics Laboratory, Skane University Hospital Lund RCV004697224 SCV005197434 uncertain significance not provided 2022-05-27 criteria provided, single submitter clinical testing

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.