ClinVar Miner

Submissions for variant NM_012154.5(AGO2):c.2140C>T (p.Arg714Trp)

dbSNP: rs866981753
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001757481 SCV002007672 pathogenic not provided 2025-03-20 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; Has not been previously published as pathogenic or benign to our knowledge
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV002276887 SCV002564438 likely pathogenic Neurodevelopmental disorder 2021-11-22 criteria provided, single submitter clinical testing
Molecular Genetics laboratory, Necker Hospital RCV001757481 SCV004031333 likely pathogenic not provided 2021-04-20 no assertion criteria provided clinical testing

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