ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.326C>T (p.Pro109Leu)

gnomAD frequency: 0.00002  dbSNP: rs398124203
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel RCV002281055 SCV002569945 likely benign FOXG1 disorder 2022-09-01 reviewed by expert panel curation The p.Pro109Leu variant is observed in at least 2 unaffected individuals (internal database) (BS2). The p.Pro109Leu variant is found in a patient with an alternate molecular basis of disease (internal database) (BP5). Computational analysis prediction tools suggest that the p.Pro109Leu variant does not have a deleterious impact; however this information does not predict clinical significance on its own (BP4). This position in gnomAD does not have at least 2,000 observed alleles in any continental population dataset (not sufficient to meet any population frequency criteria). In summary, the p.Pro109Leu variant in FOXG1 is classified as likely benign based on the ACMG/AMP criteria (BS2, BP4, BP5).
Eurofins Ntd Llc (ga) RCV000723692 SCV000113188 uncertain significance not provided 2013-08-28 criteria provided, single submitter clinical testing
GeneDx RCV000723692 SCV000241031 likely benign not provided 2021-01-20 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21280142)
Labcorp Genetics (formerly Invitae), Labcorp RCV001430866 SCV001633613 likely benign Rett syndrome, congenital variant 2023-09-27 criteria provided, single submitter clinical testing
Centre for Population Genomics, CPG RCV002281055 SCV005046864 likely benign FOXG1 disorder 2024-05-08 criteria provided, single submitter curation This variant has been collected from RettBASE and curated to current modified ACMG/AMP criteria. Based on the classification scheme defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like Disorders Specifications to the ACMG/AMP Variant Interpretation Guidelines VCEP 3.0, this variant is classified as likely benign. At least the following criteria are met: The allele frequency of this variant in at least one population in gnomAD is between 0.008% and 0.03% (BS1). Computational prediction analysis tools suggest no impact on gene product (REVEL score <= 0.15) (BP4).
RettBASE RCV000170067 SCV000222376 benign not specified 2011-03-29 no assertion criteria provided curation

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.