ClinVar Miner

Submissions for variant NM_004064.5(CDKN1B):c.463C>T (p.Pro155Ser)

gnomAD frequency: 0.00001  dbSNP: rs753502498
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
Invitae RCV001228797 SCV001401215 uncertain significance Multiple endocrine neoplasia type 4 2023-10-10 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 155 of the CDKN1B protein (p.Pro155Ser). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with CDKN1B-related conditions. ClinVar contains an entry for this variant (Variation ID: 956060). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002339625 SCV002640253 uncertain significance Hereditary cancer-predisposing syndrome 2022-10-12 criteria provided, single submitter clinical testing The p.P155S variant (also known as c.463C>T), located in coding exon 1 of the CDKN1B gene, results from a C to T substitution at nucleotide position 463. The proline at codon 155 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV001228797 SCV004212404 uncertain significance Multiple endocrine neoplasia type 4 2023-08-29 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.