ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.458G>T (p.Gly153Val)

dbSNP: rs1555321286
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NeuroMeGen, Hospital Clinico Santiago de Compostela RCV000585847 SCV000693809 uncertain significance Rett syndrome, congenital variant 2018-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000585847 SCV001216410 uncertain significance Rett syndrome, congenital variant 2021-06-28 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt FOXG1 protein function. ClinVar contains an entry for this variant (Variation ID: 495264). This variant has been observed in individual(s) with epilepsy and dyskenesia (PMID: 31780880). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change replaces glycine with valine at codon 153 of the FOXG1 protein (p.Gly153Val). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and valine.

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