ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.606C>T (p.Leu202=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003629543 SCV004389752 uncertain significance Rett syndrome, congenital variant 2023-10-17 criteria provided, single submitter clinical testing This sequence change affects codon 202 of the FOXG1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the FOXG1 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FOXG1-related conditions. 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.

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