Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
3billion | RCV002283610 | SCV002572534 | likely pathogenic | Rett syndrome, congenital variant | 2022-09-01 | criteria provided, single submitter | clinical testing | The variant is not observed in the gnomAD v2.1.1 dataset. It is located in a mutational hot spot and/or well-established functional domain in which established pathogenic variants have been reported. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.93; 3Cnet: 0.96). A different missense change at the same codon (p.Ile190Asn) has been reported to be associated with FOXG1-related disorder (PMID: 28781028). Therefore, this variant is classified as Likely pathogenic according to the recommendation of ACMG/AMP guideline. |