ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.218A>C (p.Gln73Pro)

gnomAD frequency: 0.00015  dbSNP: rs760663911
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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 RCV003448278 SCV004175927 benign FOXG1 disorder 2023-10-13 reviewed by expert panel curation The allele frequency of the p.Gln73Pro variant in FOXG1 is 0.027% in the 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.Gln73Pro variant is observed in at least 50 unaffected individuals (internal database - GeneDx) (BS2). The p.Gln73Pro variant is found in at least 8 individuals with an alternate molecular basis of disease (internal database - Invitae, internal database - GeneDx) (BP5_Strong). Computational analysis prediction tools suggest that the p.Gln73Pro variant does not have a deleterious impact; however this information does not predict clinical significance on its own (BP4). In summary, the p.Gln73Pro variant in FOXG1 is classified as Benign based on the ACMG/AMP criteria (BS1, BS2, BP5_Strong, BP4).
Eurofins Ntd Llc (ga) RCV000724697 SCV000224470 uncertain significance not provided 2015-04-07 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000173367 SCV000613347 uncertain significance not specified 2017-03-07 criteria provided, single submitter clinical testing
GeneDx RCV000724697 SCV000728461 likely benign not provided 2020-12-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000648323 SCV000770139 benign Rett syndrome, congenital variant 2024-01-22 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000648323 SCV000781521 uncertain significance Rett syndrome, congenital variant 2016-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002426828 SCV002728618 likely benign Inborn genetic diseases 2018-12-03 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.

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