Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Genetics, |
RCV003127319 | SCV003803880 | likely pathogenic | Rett syndrome, congenital variant | 2020-05-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004978768 | SCV005584198 | pathogenic | Inborn genetic diseases | 2024-10-02 | criteria provided, single submitter | clinical testing | The c.578C>T (p.A193V) alteration is located in exon 1 (coding exon 1) of the FOXG1 gene. This alteration results from a C to T substitution at nucleotide position 578, causing the alanine (A) at amino acid position 193 to be replaced by a valine (V). This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). Another alteration at the same codon, c.577G>A (p.A193T), has been reported in multiple individuals with features consistent with congenital variant of Rett syndrome (Van der Aa, 2011; Seltzer, 2014) This amino acid position is highly conserved in available vertebrate species. This missense alteration is located in a region that has a low rate of benign missense variation (Lek, 2016; Firth, 2009). This alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, this alteration is classified as pathogenic. |