Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001533103 | SCV001748923 | pathogenic | SMARCA2-related BAFopathy | 2021-06-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000059666 | SCV001875148 | pathogenic | not provided | 2022-09-06 | criteria provided, single submitter | clinical testing | Published functional studies suggest a damaging effect (severe growth defect of yeast growth compared to wild type strain) (Cappuccio et al., 2020); Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31288860, 32694869, 22366787, 35811451) |
Institute Of Human Genetics Munich, |
RCV000022916 | SCV002764896 | pathogenic | Nicolaides-Baraitser syndrome | 2022-07-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000059666 | SCV004295973 | pathogenic | not provided | 2022-11-23 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects SMARCA2 function (PMID: 32694869). 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. ClinVar contains an entry for this variant (Variation ID: 30016). This missense change has been observed in individual(s) with Nicolaides-Baraitser syndrome (PMID: 22366787). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 883 of the SMARCA2 protein (p.Pro883Leu). |
OMIM | RCV000022916 | SCV000044207 | pathogenic | Nicolaides-Baraitser syndrome | 2012-02-26 | no assertion criteria provided | literature only | |
Uni |
RCV000059666 | SCV000091236 | not provided | not provided | no assertion provided | not provided |