ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.802del (p.Arg268fs)

dbSNP: rs2494380217
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003040951 SCV003349300 likely pathogenic Beckwith-Wiedemann syndrome 2022-09-06 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the CDKN1C gene (p.Arg279Alafs*42). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 38 amino acid(s) of the CDKN1C protein and extend the protein by 3 additional amino acid residues. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the C-terminus of the CDKN1C protein. Other variant(s) that disrupt this region (p.Ser282) have been observed in individuals with CDKN1C-related conditions (PMID: 10424811, 19386358). This suggests that this may be a clinically significant region of the protein. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with CDKN1C-related conditions. This variant is not present in population databases (gnomAD no frequency).

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.