ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.444CGCCGG[3] (p.Gly152_Gly153insAlaGly)

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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 RCV003072120 SCV003466339 uncertain significance Rett syndrome, congenital variant 2022-02-27 criteria provided, single submitter clinical testing This variant, c.450_455dup, results in the insertion of 2 amino acid(s) of the FOXG1 protein (p.Ala151_Gly152dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs759245497, gnomAD 0.009%). 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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