ClinVar Miner

Submissions for variant NM_012199.5(AGO1):c.566C>T (p.Pro189Leu)

dbSNP: rs1553154069
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV000660582 SCV000782694 uncertain significance not provided 2017-06-23 criteria provided, single submitter clinical testing
GeneDx RCV000660582 SCV005332330 likely pathogenic not provided 2023-11-13 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: 34930816, 33144682)
Institute of Human Genetics, University of Leipzig Medical Center RCV004760682 SCV005368271 likely pathogenic Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures 2024-08-09 criteria provided, single submitter clinical testing Criteria applied: PS2_MOD,PM1,PS4_SUP,PM2_SUP

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