Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000623868 | SCV000742905 | likely pathogenic | Inborn genetic diseases | 2017-09-29 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV000504582 | SCV001520924 | likely pathogenic | Intellectual disability, autosomal dominant 47 | 2020-05-21 | criteria provided, single submitter | clinical testing | This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |
| 3billion | RCV000504582 | SCV002012045 | pathogenic | Intellectual disability, autosomal dominant 47 | 2021-10-02 | criteria provided, single submitter | clinical testing | Same nucleotide change resulting in same amino acid change has been previously reported as de novoo in similarly affected individual (PMID: 28119487, PS2).The missense variant is located in a mutational hot spot and/or well-established functional domain in which established pathogenic variants have been reported (PM1). It is not observed in the gnomAD v2.1.1 dataset (PM2). The variant was observed as assumed (i.e. paternity and maternity not confirmed) de novoo (3billion dataset, PM6). In silico tool predictions suggest damaging effect of the variant on gene or gene product (3Cnet: 0.963, PP3). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. |
| Invitae | RCV002524398 | SCV003525288 | pathogenic | not provided | 2022-10-11 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. 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 STAG1 protein function. ClinVar contains an entry for this variant (Variation ID: 437899). This missense change has been observed in individual(s) with STAG1-related conditions (PMID: 28119487). 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 arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 373 of the STAG1 protein (p.Arg373Gln). |
| OMIM | RCV000504582 | SCV000598640 | pathogenic | Intellectual disability, autosomal dominant 47 | 2017-08-31 | no assertion criteria provided | literature only | |
| Equipe Genetique des Anomalies du Developpement, |
RCV000507507 | SCV000605726 | likely pathogenic | STAG1-related disorder | 2016-12-20 | no assertion criteria provided | clinical testing |