ClinVar Miner

Submissions for variant NM_005273.4(GNB2):c.229G>A (p.Gly77Arg)

dbSNP: rs1804373189
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV001255618 SCV001432149 pathogenic GNB2-related disorder 2024-07-03 criteria provided, single submitter clinical testing This variant explains the neurodevelopmental phenotype observed in the patient, including his developmental delays, hypotonia, dysmorphic features, and early feeding difficulties.
GeneDx RCV001587296 SCV001827181 pathogenic not provided 2021-11-30 criteria provided, single submitter clinical testing Not observed in large population cohorts (gnomAD); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 30209403, 31698099, 33644862)
3billion RCV001586093 SCV002521017 pathogenic Neurodevelopmental disorder with hypotonia and dysmorphic facies 2022-05-22 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Missense changes are a common disease-causing mechanism. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.68; 3Cnet: 0.91). Same nucleotide change resulting in same amino acid change has been previously reported to be associated with GNB2 related disorder (ClinVar ID: VCV000977754). The variant has been previously reported as de novo in a similarly affected individual (PMID: 31698099) and reported as assumed (i.e. paternity and maternity not confirmed) de novo in at least one similarly affected unrelated individual (PMID:34183358). A different missense change at the same codon (p.Gly77Trp) has been reported to be associated with GNB2 related disorder (ClinVar ID: VCV001013609). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
OMIM RCV001586093 SCV001821512 pathogenic Neurodevelopmental disorder with hypotonia and dysmorphic facies 2022-04-25 no assertion criteria provided literature only

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