ClinVar Miner

Submissions for variant NM_001128849.2(SMARCA4):c.2653C>T (p.Arg885Cys) (rs281875227)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624083 SCV000741004 pathogenic Inborn genetic diseases 2016-03-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: LIKELY POSITIVE: Relevant Alteration(s) Detected
GeneDx RCV000059685 SCV000329846 pathogenic not provided 2018-03-23 criteria provided, single submitter clinical testing The R885C variant in the SMARCA4 gene has been reported previously in at least one individual with Coffin-Siris syndrome (Tsurusaki et al., 2012). The R885C variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The R885C 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. A missense variant at the same residue (R885H) has been reported in the Human Gene Mutation Database in association with Coffin-Siris Syndrome (Kosho et al., 2013; Stenson et al., 2014), supporting the functional importance of this region of the protein. Based on currently available evidence, we interpret R885C as a pathogenic variant.
Institute of Human Genetics,Klinikum rechts der Isar RCV000023286 SCV000680383 pathogenic Mental retardation, autosomal dominant 16 2017-09-07 criteria provided, single submitter clinical testing
OMIM RCV000023286 SCV000044577 pathogenic Mental retardation, autosomal dominant 16 2012-03-18 no assertion criteria provided literature only
UniProtKB/Swiss-Prot RCV000059685 SCV000091255 not provided not provided no assertion provided not provided

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.