Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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, |
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, |
RCV000496143 | SCV000803885 | pathogenic | Ogden syndrome | 2017-11-17 | criteria provided, single submitter | clinical testing | |
Institute of Medical Genetics and Applied Genomics, |
RCV000340214 | SCV001447175 | pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | |
Arnesen Lab, |
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. |