ClinVar Miner

Submissions for variant NM_003070.5(SMARCA2):c.3475C>G (p.Arg1159Gly)

dbSNP: rs281875184
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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000022912 SCV001360665 pathogenic Nicolaides-Baraitser syndrome 2019-11-04 criteria provided, single submitter clinical testing Variant summary: SMARCA2 c.3475C>G (p.Arg1159Gly) results in a non-conservative amino acid change located in the Helicase, C-terminal domain (IPR001650) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 250800 control chromosomes (gnomAD). c.3475C>G has been reported in the literature in individuals affected with Nicolaides-Baraitser syndrome (e.g. VanHoudt_2012, Sousa_2014), and was detected as a de-novo mutation in at least one of these patients (VanHoudt_2012). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. In addition, p.R1159Q and p.R1159L have been reported in patients with Nicolaides-Baraitser syndrome (HGMD database). Based on the evidence outlined above, the variant was classified as pathogenic.
OMIM RCV000022912 SCV000044203 pathogenic Nicolaides-Baraitser syndrome 2012-02-26 no assertion criteria provided literature only
UniProtKB/Swiss-Prot RCV000059675 SCV000091245 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.