ClinVar Miner

Submissions for variant NM_003070.5(SMARCA2):c.875C>T (p.Pro292Leu)

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
Neuberg Centre For Genomic Medicine, NCGM RCV003338046 SCV004046919 uncertain significance Nicolaides-Baraitser syndrome criteria provided, single submitter clinical testing The missense variant c.875C>T (p.Pro292Leu) in SMARCA2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Pro292Leu variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid Pro at position 292 is changed to a Leu changing protein sequence and it might alter its composition and physico-chemical properties. The variant is predicted to be damaging by SIFT and the residue is conserved across species. The amino acid change p.Pro292Leu in SMARCA2 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance .
CeGaT Center for Human Genetics Tuebingen RCV003427740 SCV004161771 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing SMARCA2: PP2, BS2

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.