ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.455G>C (p.Gly152Ala)

gnomAD frequency: 0.00004  dbSNP: rs796052460
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Total submissions: 5
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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 RCV003448329 SCV004175931 benign FOXG1 disorder 2023-10-13 reviewed by expert panel curation The allele frequency of the p.Gly152Ala variant in FOXG1 is 0.008% in Latino 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.Gly152Ala variant is observed in at least 20 unaffected individuals (internal database - GeneDx; internal database - Invitae) (BS2).The p.Gly152Ala variant is found in at least 4 patients with an alternate molecular basis of disease (internal database - GeneDx; internal database - Invitae) (BP5_strong). Computational analysis prediction tools suggest that the p.Gly152Ala variant does not have a deleterious impact; however this information does not predict clinical significance on its own (BP4). In summary, the p.Gly152Ala variant in FOXG1 is classified as Benign based on the ACMG/AMP criteria (BS1, BS2, BP5_strong, BP4).
Labcorp Genetics (formerly Invitae), Labcorp RCV000648317 SCV000770131 benign Rett syndrome, congenital variant 2023-11-11 criteria provided, single submitter clinical testing
GeneDx RCV001557038 SCV001778733 likely benign not provided 2020-06-11 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001816606 SCV002070691 uncertain significance not specified 2019-05-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV004025747 SCV004871876 likely benign Inborn genetic diseases 2023-12-16 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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