ClinVar Miner

Submissions for variant NM_005052.3(RAC3):c.176C>G (p.Ala59Gly)

dbSNP: rs1379395211
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000577916 SCV000583578 likely pathogenic Distal shortening of limbs 2017-06-01 criteria provided, single submitter research
Mendelics RCV000850258 SCV001135115 likely pathogenic Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies 2019-05-28 criteria provided, single submitter clinical testing
Baylor Genetics RCV000850258 SCV001520786 likely pathogenic Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies 2020-06-02 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Revvity Omics, Revvity RCV000850258 SCV003810461 uncertain significance Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies 2021-04-08 criteria provided, single submitter clinical testing
GeneDx RCV004722946 SCV005331857 pathogenic not provided 2024-03-25 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect by increasing binding to Rac Binding Regions and increasing transcriptional activation of downstream signaling (PMID: 35851598); Not observed at significant frequency in large population cohorts (gnomAD); 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: 35851598, 35047859, 29276006)
3billion RCV000850258 SCV005905603 likely pathogenic Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies 2023-06-29 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Predicted Consequence/Location: Missense changes are a common disease-causing mechanism. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.64; 3Cnet: 0.97). Same nucleotide change resulting in same amino acid change has been previously reported to be associated with RAC3 related disorder (ClinVar ID: VCV000488059). The variant has been previously reported as de novo in a similarly affected individual (PMID: 29276006). Therefore, this variant is classified as Likely pathogenic according to the recommendation of ACMG/AMP guideline.
OMIM RCV000850258 SCV000992430 pathogenic Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies 2019-09-12 no assertion criteria provided literature only

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