ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.543G>T (p.Lys181Asn) (rs767961672)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute RCV000408627 SCV000484444 likely pathogenic Rett syndrome, congenital variant 2015-09-02 criteria provided, single submitter clinical testing This variant is predicted to create a change of a lysine to an asparagine at position 181. The lysine at this position is located in the forkhead transcription factor domain, and is highly conserved. Physiochemical properties suggest a moderate amino acid change. Grantham assessment is deleterious. In-silico software predicts this variant to be disease-causing. This is a novel variant not present in disease or population databases. It was confirmed to be de novo in the proband.

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