ClinVar Miner

Submissions for variant NM_014780.4(CUL7):c.3041T>G (p.Leu1014Arg) (rs61752334)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000210570 SCV000263029 likely pathogenic Inborn genetic diseases 2014-03-10 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000480559 SCV000226508 likely pathogenic not provided 2015-05-07 criteria provided, single submitter clinical testing
GeneDx RCV000480559 SCV000564918 likely pathogenic not provided 2018-05-02 criteria provided, single submitter clinical testing The L1014R variant in the CUL7 gene has been previously reported in either the homozygous state or in the heterozygous state with a second identified CUL7 variant in patients with 3-M syndrome (Huber et al., 2005; Huber et al., 2009). The L1014R variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The L1014R variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret L1014R as a likely pathogenic variant.
SIB Swiss Institute of Bioinformatics RCV000755718 SCV000883195 uncertain significance Three M syndrome 1 2018-10-15 criteria provided, single submitter curation This variant is interpreted as Uncertain Significance - Insufficient Evidence, for Three M syndrome 1, autosomal recessive. The following ACMG Tag(s) were applied: PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product. PM3-Supporting => PM3 downgraded in strength to Supporting (https://www.ncbi.nlm.nih.gov/pubmed/16142236).

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.