ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.703C>T (p.Leu235Phe) (rs1566445489)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000706347 SCV000835390 likely pathogenic Rett syndrome, congenital variant 2018-08-25 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 235 of the FOXG1 protein (p.Leu235Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in an individual affected with gait abnormalities, developmental delay, and hypotonia (Invitae). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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