ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.812G>A (p.Gly271Asp)

dbSNP: rs796052469
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187466 SCV000241059 likely pathogenic not provided 2015-01-02 criteria provided, single submitter clinical testing p.Gly271Asp (GGC>GAC): c.812 G>A in exon 1 of the FOXG1 gene (NM_005249.3). The G271D variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The G271D variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution alters a highly conserved position predicted to be within the fork-head binding domain where all previously reported missense mutations in FOXG1 have been identified. In silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, this variant is a strong candidate for a pathogenic mutation, however the possibility that it is a benign variant cannot be excluded. The variant is found in EPILEPSY panel(s).
Labcorp Genetics (formerly Invitae), Labcorp RCV000803740 SCV000943625 likely pathogenic Rett syndrome, congenital variant 2021-08-28 criteria provided, single submitter clinical testing

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