ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.320C>T (p.Pro107Leu)

gnomAD frequency: 0.00013  dbSNP: rs771731330
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000464222 SCV000541745 likely benign Beckwith-Wiedemann syndrome 2024-01-21 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine, University of Washington RCV000664304 SCV000788233 benign IMAGe syndrome; Beckwith-Wiedemann syndrome due to CDKN1C mutation 2018-04-01 criteria provided, single submitter research The CDKN1C variant designated as NM_000076.2:c.353C>T (p.Pro118Leu) is classified as likely benign. The CDKN1C gene is a paternally imprinted gene. Maternally inherited pathogenic variants in the CDKN1C gene are associated with Beckwith-Wiedemann syndrome and IMAGE syndrome. However, missense variants associated with these syndromes are in different domains than the CDKN1C p.Pro118Leu missense variant (Arboleda et al 2012, PMID:22634751), indicating that this variant is less likely to cause disease. Additionally, the variant was maternally inherited in one observed patient who reported no clinical symptoms of Beckwith-Wiedemann syndrome or IMAGE syndrome after four decades of life. Bayesian analysis integrating this data (Tavtigian et al, 2018, PMID:29300386) gives less than 0.1% probability of pathogenicity, which is consistent with a classification of benign. This analysis was performed in conjunction with the family studies project as part of the University of Washington Find My Variant Study.
Sema4, Sema4 RCV000464222 SCV002534267 likely benign Beckwith-Wiedemann syndrome 2021-06-03 criteria provided, single submitter curation
Ambry Genetics RCV002526393 SCV003717965 likely benign Inborn genetic diseases 2021-06-14 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003899902 SCV004712279 likely benign CDKN1C-related condition 2024-02-22 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.