ClinVar Miner

Submissions for variant NM_003491.4(NAA10):c.384T>A (p.Phe128Leu)

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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, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000225366 SCV000267571 pathogenic Ogden syndrome 2016-03-31 criteria provided, single submitter clinical testing
GeneDx RCV000414068 SCV000490659 pathogenic not provided 2019-10-09 criteria provided, single submitter clinical testing Published functional studies demonstrate that this variant results in over 90% reduction in catalytic activity (Saunier et al., 2016); Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 28135719, 27094817)
OMIM RCV000225366 SCV002570113 pathogenic Ogden syndrome 2022-09-08 no assertion criteria provided literature only

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