ClinVar Miner

Submissions for variant NM_002074.5(GNB1):c.284T>C (p.Leu95Pro)

dbSNP: rs869312824
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 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, Hospices Civils de Lyon RCV002264671 SCV002546241 pathogenic Hypotonia 2022-07-11 criteria provided, single submitter clinical testing de novo, previously published.
Genomics And Bioinformatics Analysis Resource, Columbia University 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, University of Washington RCV000755060 SCV000882876 likely pathogenic Seizure; Hypotonia; Neurodevelopmental Disability 2016-05-05 no assertion criteria provided research
GeneReviews RCV001290214 SCV001478309 not provided Intellectual disability, autosomal dominant 42 no assertion provided literature only

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