ClinVar Miner

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

dbSNP: rs878853263
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000340214 SCV000330137 pathogenic not provided 2023-02-10 criteria provided, single submitter clinical testing Not observed 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: 31127942, 31036916, 35039925, 28708303)
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris RCV000496143 SCV000586763 pathogenic Ogden syndrome 2017-01-06 criteria provided, single submitter clinical testing Intellectual disability, severe; extrapyramIntellectual disabilityal syndrome; microcephaly; late onset epilepsy; precocious puberty
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000496143 SCV000803885 pathogenic Ogden syndrome 2017-11-17 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000340214 SCV001447175 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Arnesen Lab, University of Bergen RCV000496143 SCV001981509 pathogenic Ogden syndrome criteria provided, single submitter clinical testing Published functional studies for a NAA10 F128L missense variant, caused by a different nucleotide substitution (c.384T>A), demonstrated reduced catalytic activity (Saunier et al., 2016) and the variant was reported as pathogenic. The NAA10 c.384T>G result in the same F128L missense variant and is therefore also considered pathogenic.

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