ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.209AGC[5] (p.Gln73dup)

dbSNP: rs398124201
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Total submissions: 8
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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 RCV002281053 SCV002569935 benign FOXG1 disorder 2022-08-25 reviewed by expert panel curation The allele frequency of the p.Gln73dup variant in FOXG1 is 0.008% in European (non-Finnish) sub population in gnomAD, which is high enough to meet the BS1 criteria based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BS1). The p.Gln73dup variant is observed in at least 2 unaffected individuals (internal database) (BS2). The p.Gln73dup variant is an in-frame duplication present in a repetitive region of FOXG1 (BP3). In summary, the p.Gln73dup variant in FOXG1 is classified as benign based on the ACMG/AMP criteria (BS1, BS2, BP3).
Eurofins Ntd Llc (ga) RCV000081278 SCV000113186 uncertain significance not provided 2012-12-04 criteria provided, single submitter clinical testing
GeneDx RCV000187436 SCV000241027 likely benign not specified 2014-07-23 criteria provided, single submitter clinical testing The variant is found in EPILEPSY panel(s).
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000408838 SCV000484839 likely benign Rett syndrome, congenital variant 2016-11-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000408838 SCV000677043 likely benign Rett syndrome, congenital variant 2024-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311626 SCV000846735 likely benign Inborn genetic diseases 2024-07-18 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 RCV000081278 SCV001149197 benign not provided 2024-08-01 criteria provided, single submitter clinical testing FOXG1: BP3, BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003964933 SCV004781412 benign FOXG1-related disorder 2023-12-13 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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