Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001556774 | SCV001778412 | pathogenic | not provided | 2021-06-29 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27535533, 27108799) |
Invitae | RCV001556774 | SCV002138600 | pathogenic | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | This variant disrupts the p.Asp76 amino acid residue in GNB1. Other variant(s) that disrupt this residue have been observed in individuals with GNB1-related conditions (PMID: 27108799), which suggests that this may be a clinically significant amino acid residue. 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 GNB1 protein function. ClinVar contains an entry for this variant (Variation ID: 224711). This missense change has been observed in individual(s) with intellectual disability syndrome (PMID: 27108799). 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 aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 76 of the GNB1 protein (p.Asp76Gly). |
Genomics And Bioinformatics Analysis Resource, |
RCV000210265 | SCV000266332 | pathogenic | Global developmental delay; Intellectual disability; Infantile muscular hypotonia; Hypotonia | 2016-02-10 | no assertion criteria provided | research | |
OMIM | RCV000225254 | SCV000282057 | pathogenic | Intellectual disability, autosomal dominant 42 | 2021-11-02 | no assertion criteria provided | literature only | |
OMIM | RCV000225357 | SCV000282058 | pathogenic | Acute lymphoid leukemia | 2021-11-02 | no assertion criteria provided | literature only | |
University of Washington Center for Mendelian Genomics, |
RCV000755052 | SCV000882868 | likely pathogenic | Seizure; Hypotonia; Neurodevelopmental Disability | 2016-05-05 | no assertion criteria provided | research |