ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.799G>A (p.Gly267Ser) (rs587783643)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480864 SCV000569927 pathogenic not provided 2018-03-19 criteria provided, single submitter clinical testing The G267S pathogenic variant in the FOXG1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. However, G267S has been identified as a de novo variant with confirmed parentage in multiple patients previously tested at GeneDx with features consistent with the congenital variant of Rett syndrome. The G267S variant is not observed in large population cohorts (Lek et al., 2016). The G267S variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This variant occurs within the fork-head DNA binding domain. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret G267S as a pathogenic variant.
Genetic Services Laboratory, University of Chicago RCV000145998 SCV000193147 likely pathogenic Rett syndrome, congenital variant 2013-02-08 criteria provided, single submitter clinical testing

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