ClinVar Miner

Submissions for variant NM_006265.2(RAD21):c.1852A>G (p.Ser618Gly) (rs1554610467)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000518887 SCV000621483 uncertain significance not provided 2018-06-14 criteria provided, single submitter clinical testing The S618G variant in the RAD21 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016). The S618G 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. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret S618G as a variant of uncertain significance.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000678279 SCV000804335 uncertain significance Cornelia de Lange syndrome 4 2017-10-26 criteria provided, single submitter provider interpretation This 13 year old male has a history of autism spectrum disorder, ADHD, myopia, sleep issues, anxiety, and epistaxis. The c.1852A>G variant was inherited from this patient's father. The variant has not been reported in population databases (ExAC and gnomAD). A different missense variant at the same amino acid residue has been reported in one individual from the Latino population (frequency of 0.0029%). Computional models are inconsistent. The patient's father does not have a history of neurodevelopmental concerns.

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.