ClinVar Miner

Submissions for variant NM_005273.4(GNB2):c.217G>A (p.Ala73Thr)

gnomAD frequency: 0.00001  dbSNP: rs1424516740
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV006270513 SCV007125472 pathogenic not provided 2025-06-10 criteria provided, single submitter clinical testing 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: 28714951, 35982160, 28191890, 31785789, 33057194, 35982159, 38585854, 34183358)
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV001582411 SCV004801373 likely pathogenic Neurodevelopmental disorder with hypotonia and dysmorphic facies 2024-03-14 criteria provided, single submitter research
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin RCV001582411 SCV002574827 likely pathogenic Neurodevelopmental disorder with hypotonia and dysmorphic facies 2022-09-22 criteria provided, single submitter clinical testing
3billion RCV001582411 SCV002058664 pathogenic Neurodevelopmental disorder with hypotonia and dysmorphic facies 2022-01-03 criteria provided, single submitter clinical testing The variant has been observed in at least two similarly affected unrelated individuals (PMID: 34183358, PS4_M). The variant has been previously reported as de novo in a similarly affected individual (PMID: 34183358, PS2_S). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.639, PP3_P). A missense variant is a common mechanism associated with Neurodevelopmental disorder with hypotonia and dysmorphic facies (PP2_P). It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000032, PM2_M).Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001582411 SCV001994806 pathogenic Neurodevelopmental disorder with hypotonia and dysmorphic facies 2021-10-28 criteria provided, single submitter clinical testing
OMIM RCV001582411 SCV001821514 pathogenic Neurodevelopmental disorder with hypotonia and dysmorphic facies 2022-04-25 no assertion criteria provided literature only

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