ClinVar Miner

Submissions for variant NM_005465.7(AKT3):c.1330A>G (p.Ile444Val)

dbSNP: rs1574509510
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München RCV000995482 SCV001149670 likely pathogenic Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 2019-06-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001172028 SCV001334957 likely pathogenic not provided 2020-03-01 criteria provided, single submitter clinical testing
GeneDx RCV001172028 SCV003798497 uncertain significance not provided 2022-08-02 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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