ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.577G>A (p.Ala193Thr) (rs786205005)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000170078 SCV000650054 pathogenic Rett syndrome, congenital variant 2017-06-19 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 193 of the FOXG1 protein (p.Ala193Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has been reported to be de novo in individuals affected with FOXG1-related disorders including Rett syndrome (PMID:  22190898, 27029630, 24836831).  ClinVar contains an entry for this variant (Variation ID: 189616). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000624178 SCV000741670 pathogenic Inborn genetic diseases 2016-07-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
RettBASE RCV000170078 SCV000222389 pathogenic Rett syndrome, congenital variant 2012-05-18 no assertion criteria provided curation

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