ClinVar Miner

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

dbSNP: rs767961672
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001785288 SCV002026237 pathogenic Rett syndrome, congenital variant 2018-01-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001785288 SCV002211447 pathogenic Rett syndrome, congenital variant 2021-12-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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 expected to disrupt FOXG1 protein function. This missense change has been observed in individual(s) with FOXG1-related conditions (PMID: 26938784, 28661489). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 181 of the FOXG1 protein (p.Lys181Asn).

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