ClinVar Miner

Submissions for variant NM_003070.5(SMARCA2):c.2255G>C (p.Gly752Ala)

dbSNP: rs281875198
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
Invitae RCV000059656 SCV003440675 pathogenic not provided 2022-04-06 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 752 of the SMARCA2 protein (p.Gly752Ala). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Nicolaides-Baraitser syndrome and/or SMARCA2-related conditions (PMID: 22366787; Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 30019). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SMARCA2 protein function. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000022919 SCV000044210 pathogenic Nicolaides-Baraitser syndrome 2012-02-26 no assertion criteria provided literature only
UniProtKB/Swiss-Prot RCV000059656 SCV000091226 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.