ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.672C>G (p.Gly224=)

dbSNP: rs587783639
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel RCV003235069 SCV003933685 benign FOXG1 disorder 2023-04-14 reviewed by expert panel curation The allele frequency of the p.Gly224= variant in FOXG1 is 0.136% in Latino sub population in gnomAD, which is high enough to be classified as benign based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BA1). In summary, the p.Gly224= variant in FOXG1 is classified as benign based on the ACMG/AMP criteria (BA1).
Genetic Services Laboratory, University of Chicago RCV000145993 SCV000193142 uncertain significance Rett syndrome, congenital variant 2013-02-08 criteria provided, single submitter clinical testing
GeneDx RCV001719916 SCV000728463 benign not provided 2021-04-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000145993 SCV000770135 benign Rett syndrome, congenital variant 2024-12-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316932 SCV000851528 likely benign Inborn genetic diseases 2017-02-01 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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