ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.209A>C (p.Gln70Pro)

gnomAD frequency: 0.00026  dbSNP: rs587783633
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Total submissions: 6
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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 RCV004698421 SCV005200087 benign FOXG1 disorder 2024-06-25 reviewed by expert panel curation The highest population minor allele frequency of the p.Gln70Pro variant in FOXG1 in gnomAD v4.1 is 0.00033 in the Admixed American population, which is higher than the ClinGen Rett and Angelman-like Disorders VCEP threshold (≥0.0003) for BA1, and therefore meets this criterion (BA1). The p.Gln70Pro variant is observed in at least 2 unaffected individuals (Internal database - Ambry) (BS2). Computational analysis prediction tools suggest that the p.Gln70Pro variant does not have a deleterious impact; however this information does not predict clinical significance on its own (BP4). In summary, the p.Gln70Pro variant in FOXG1 is classified as benign based on the ACMG/AMP criteria (BA1, BS2, BP4).
Genetic Services Laboratory, University of Chicago RCV000145985 SCV000193134 likely benign not specified 2013-02-08 criteria provided, single submitter clinical testing
GeneDx RCV000145985 SCV000241024 likely benign not specified 2016-12-01 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000576256 SCV000676977 benign Rett syndrome, congenital variant 2023-12-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316930 SCV000851014 likely benign Inborn genetic diseases 2017-12-06 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.
Revvity Omics, Revvity RCV000576256 SCV003833645 uncertain significance Rett syndrome, congenital variant 2021-03-17 criteria provided, single submitter clinical testing

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