ClinVar Miner

Submissions for variant NM_000077.5(CDKN2A):c.388C>T (p.Leu130=)

gnomAD frequency: 0.00001  dbSNP: rs1060501261
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000583274 SCV000689604 likely benign Hereditary cancer-predisposing syndrome 2017-09-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001442310 SCV001645259 likely benign Familial melanoma 2024-10-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000583274 SCV002623549 uncertain significance Hereditary cancer-predisposing syndrome 2023-01-26 criteria provided, single submitter clinical testing The c.388C>T variant (also known as p.L130L), located in coding exon 2 of the CDKN2A gene, results from a C to T substitution at nucleotide position 388. This nucleotide substitution does not change the leucine at codon 130. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive; and direct evidence is insufficient at this time (Ambry internal data). 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.