ClinVar Miner

Submissions for variant NM_002074.5(GNB1):c.227A>G (p.Asp76Gly) (rs869312821)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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)
Institute for Genomic Medicine, Columbia University,Columbia University Medical Center RCV000210265 SCV000266332 pathogenic Global developmental delay; Intellectual disability; Infantile muscular hypotonia; Muscular hypotonia 2016-02-10 no assertion criteria provided research
OMIM RCV000225254 SCV000282057 pathogenic Mental retardation, autosomal dominant 42 2016-08-08 no assertion criteria provided literature only
OMIM RCV000225357 SCV000282058 pathogenic Acute lymphoid leukemia 2016-08-08 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV000755052 SCV000882868 likely pathogenic Seizures; hypotonia; Neurodevelopmental Disability 2016-05-05 no assertion criteria provided research

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