ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.100G>A (p.Glu34Lys)

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
Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta RCV001090131 SCV001193435 likely pathogenic Beckwith-Wiedemann syndrome 2019-11-07 criteria provided, single submitter clinical testing Based on absence in controls, localization to cyclin-dependent kinase domain, computational evidence, and additional case-level data, this variant can be classified as likely pathogenic.
Invitae RCV001090131 SCV001393488 uncertain significance Beckwith-Wiedemann syndrome 2019-08-14 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 45 of the CDKN1C protein (p.Glu45Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CDKN1C-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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.

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.