ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.694A>G (p.Asn232Asp) (rs786205486)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000648315 SCV000770129 likely pathogenic Rett syndrome, congenital variant 2017-11-18 criteria provided, single submitter clinical testing This sequence change replaces asparagine with aspartic acid at codon 232 of the FOXG1 protein (p.Asn232Asp). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and aspartic acid. 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 FOXG1-related disease (Invitae). Algorithms developed to predict the effect of missense changes on protein structure and function 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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