ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.578C>T (p.Ala193Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 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.

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