ClinVar Miner

Submissions for variant NM_001080522.2(CC2D2A):c.2624C>T (p.Ser875Leu) (rs200904521)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000732739 SCV000860723 uncertain significance not provided 2018-04-09 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765758 SCV000897146 uncertain significance COACH syndrome; Meckel syndrome type 6; Joubert syndrome 9 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000732739 SCV000582683 uncertain significance not provided 2017-05-12 criteria provided, single submitter clinical testing The S875L variant in the CC2D2A gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The S875L variant is observed in 1/6614 (0.015%) alleles from individuals of European (Finnish) background and in 6/66420 (0.009%) alleles from individuals of European (non-Finnish) background in the ExAC dataset, with no individuals reported to be homozygous (Lek et al., 2016). The S875L 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 not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret S875L 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.