Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Pediatrics, |
RCV001252684 | SCV001163827 | likely pathogenic | Microcephaly | criteria provided, single submitter | research | ||
Invitae | RCV001853369 | SCV002209450 | pathogenic | not provided | 2021-08-12 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This sequence change replaces leucine with proline at codon 95 of the GNB1 protein (p.Leu95Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with GNB1-related conditions (PMID: 27108799, 30194818). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 224716). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). |
Génétique des Maladies du Développement, |
RCV002264671 | SCV002546241 | pathogenic | Hypotonia | 2022-07-11 | criteria provided, single submitter | clinical testing | de novo, previously published. |
Genomics And Bioinformatics Analysis Resource, |
RCV000210270 | SCV000266338 | pathogenic | Global developmental delay; Expressive language delay; Seizure; Failure to thrive; Feeding difficulties; Growth delay; Nystagmus; Cerebral visual impairment; Strabismus; Intellectual disability; Limb hypertonia; Inability to walk; Multifocal epileptiform discharges; Hypotonia | 2016-02-10 | no assertion criteria provided | research | |
University of Washington Center for Mendelian Genomics, |
RCV000755060 | SCV000882876 | likely pathogenic | Seizure; Hypotonia; Neurodevelopmental Disability | 2016-05-05 | no assertion criteria provided | research | |
Gene |
RCV001290214 | SCV001478309 | not provided | Intellectual disability, autosomal dominant 42 | no assertion provided | literature only |