ClinVar Miner

Submissions for variant NM_012199.5(AGO1):c.1376A>G (p.Gln459Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics, Synlab MVZ Humangenetik Freiburg RCV003330374 SCV004037474 uncertain significance Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures 2023-07-25 no assertion criteria provided clinical testing The AGO1-variant c.1376A>G, p.(Gln459Arg), is not described as pathogenic and ist not listed in control databases (dbSNP, gnomAD). In silico predictions assess the impact of the variant p.(Gln459Arg) as tolerated. In our patient the variant occured de novo. We rate the AGO1-variant c.1376A>G, p.(Gln459Arg), uncertain signficance.

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