ClinVar Miner

Submissions for variant NM_001079872.2(CUL4B):c.995T>C (p.Ile332Thr)

dbSNP: rs1924204795
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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV001089951 SCV001245024 uncertain significance X-linked intellectual disability Cabezas type 2018-11-05 criteria provided, single submitter clinical testing A hemizygous missense variant, NM_003588.3(CUL4B):c.1049T>C, has been identified in exon 8 of 22 of the CUL4B gene. The variant is predicted to result in a moderate amino acid change from isoleucine to threonine at position 350 of the protein (NP_003579.3(CUL4B):p.(Ile350Thr)). The isoleucine at this position has very high conservation (100 vertebrates, UCSC), and is located within the cullin domain. In silico predictions for this variant are consistently pathogenic (Polyphen, SIFT, CADD, Mutation Taster). The variant is absent in population databases (gnomAD, dbSNP, 1000G). However, a different variant in the same codon resulting in a change to valine has been found in the population (0.0005%; 1 heterozygote, 0 hemizygotes and 0 homozygotes). This variant has not been previously reported in clinical cases. Based on the information available at the time of curation, this variant has been classified as a VARIANT of UNCERTAIN SIGNIFICANCE (VUS) with POTENTIAL CLINICAL RELEVANCE.

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.