ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.454G>A (p.Gly152Arg)

dbSNP: rs1365260962
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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 RCV001319677 SCV001510434 uncertain significance Rett syndrome, congenital variant 2020-07-13 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 152 of the FOXG1 protein (p.Gly152Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine. 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 variant has not been reported in the literature in individuals 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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