ClinVar Miner

Submissions for variant NM_012199.5(AGO1):c.583G>A (p.Glu195Lys)

dbSNP: rs2148711374
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003328681 SCV004035374 likely pathogenic not provided 2023-03-07 criteria provided, single submitter clinical testing 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: 27620904)
Diagnostic Laboratory, Strasbourg University Hospital RCV001837037 SCV001977087 likely pathogenic Intellectual disability 2021-01-01 no assertion criteria provided clinical testing
OMIM RCV003155422 SCV003844057 pathogenic Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures 2023-03-22 no assertion criteria provided literature only

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