ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.201G>T (p.Pro67=)

gnomAD frequency: 0.00029  dbSNP: rs587780944
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Total submissions: 7
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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 RCV001507042 SCV001711991 benign FOXG1 disorder 2021-03-26 reviewed by expert panel curation The allele frequency of the p.Pro67= variant in FOXG1 is 0.055% in European (Non-Finnish) 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). The silent p.Pro67= variant is not predicted to affect splicing using multiple computational tools and does not affect a highly conserved nucleotide (BP7). In summary, the p.Pro67= variant in FOXG1 is classified as benign based on the ACMG/AMP criteria (BA1, BP7).
GeneDx RCV001704050 SCV000168581 benign not provided 2020-06-26 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000125141 SCV000247412 likely benign not specified 2017-06-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000530287 SCV000650045 likely benign Rett syndrome, congenital variant 2024-01-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312875 SCV000847539 likely benign Inborn genetic diseases 2016-08-23 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.
CeGaT Center for Human Genetics Tuebingen RCV001704050 SCV004129152 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing FOXG1: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003952653 SCV004770136 likely benign FOXG1-related disorder 2023-04-04 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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