ClinVar Miner

Submissions for variant NM_004064.5(CDKN1B):c.586C>T (p.Arg196Cys)

gnomAD frequency: 0.00001  dbSNP: rs766315004
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000467304 SCV000541771 uncertain significance Multiple endocrine neoplasia type 4 2025-01-28 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 196 of the CDKN1B protein (p.Arg196Cys). This variant is present in population databases (rs766315004, gnomAD 0.002%). 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: 404274). 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 RCV002356634 SCV002650304 uncertain significance Hereditary cancer-predisposing syndrome 2024-10-10 criteria provided, single submitter clinical testing The p.R196C variant (also known as c.586C>T), located in coding exon 2 of the CDKN1B gene, results from a C to T substitution at nucleotide position 586. The arginine at codon 196 is replaced by cysteine, an amino acid with highly dissimilar properties. This alteration has been reported in an individual with a sporadic prolactinoma diagnosed at age 15 (Mougel G et al. Eur J Endocrinol, 2020 Oct;183:369-379). This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.
Baylor Genetics RCV000467304 SCV004212415 uncertain significance Multiple endocrine neoplasia type 4 2023-06-15 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.