Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000990995 | SCV001142075 | likely pathogenic | Ogden syndrome | 2019-05-28 | criteria provided, single submitter | clinical testing | |
3billion | RCV000990995 | SCV002572715 | likely pathogenic | Ogden syndrome | 2022-09-01 | criteria provided, single submitter | clinical testing | The variant is not observed in the gnomAD v2.1.1 dataset. Missense changes are a common disease-causing mechanism. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.70; 3Cnet: 0.96). Same nucleotide change resulting in same amino acid change has been previously reported to be associated with NAA10-related disorder (ClinVar ID: VCV000804122). A different missense change at the same codon (p.Pro39Thr) has been reported to be associated with NAA10-related disorder (ClinVar ID: VCV000637034). Therefore, this variant is classified as Likely pathogenic according to the recommendation of ACMG/AMP guideline. |