ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.602G>C (p.Arg201Pro)

dbSNP: rs2138661213
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV001806440 SCV002054034 likely pathogenic Rett syndrome, congenital variant criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001806440 SCV003307672 pathogenic Rett syndrome, congenital variant 2024-08-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 201 of the FOXG1 protein (p.Arg201Pro). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of FOXG1-related conditions (Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 1332866). 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 with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.

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