ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.1323C>T (p.Ser441=)

gnomAD frequency: 0.00023  dbSNP: rs144434028
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Total submissions: 10
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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 RCV002260611 SCV002540690 benign FOXG1 disorder 2022-02-18 reviewed by expert panel curation The p.Ser441= variant in FOXG1 has an allele frequency of 0.049% in the South Asian 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.Ser441= variant in FOXG1 is classified as benign based on the ACMG/AMP criteria (BA1).
GeneDx RCV000125146 SCV000168586 benign not specified 2013-04-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics RCV000125146 SCV000613346 benign not specified 2017-04-28 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000726770 SCV000702928 uncertain significance not provided 2016-11-28 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000611927 SCV000744032 likely benign Rett syndrome, congenital variant 2017-11-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312562 SCV000845870 likely benign Inborn genetic diseases 2016-04-07 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000611927 SCV001002169 benign Rett syndrome, congenital variant 2023-12-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000726770 SCV004129158 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing FOXG1: BP4, BP7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000611927 SCV000733376 likely benign Rett syndrome, congenital variant no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000726770 SCV001974965 likely benign not provided no assertion criteria provided clinical testing

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