ClinVar Miner

Submissions for variant NM_001318852.2(MAPK8IP3):c.1385A>G (p.Glu462Gly)

dbSNP: rs1596766963
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001172335 SCV001335368 likely pathogenic Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA 2019-02-07 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed).
GeneDx RCV002509619 SCV002818925 likely pathogenic not provided 2022-07-08 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: 30612693, 28213671)

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