ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.1233G>A (p.Ala411=)

gnomAD frequency: 0.00801  dbSNP: rs34654108
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081277 SCV000113185 benign not specified 2012-10-11 criteria provided, single submitter clinical testing
GeneDx RCV000081277 SCV000168585 benign not specified 2012-05-10 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.
Genetic Services Laboratory, University of Chicago RCV000081277 SCV000193129 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV000542433 SCV000660419 benign Rett syndrome, congenital variant 2024-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313780 SCV000847354 benign Inborn genetic diseases 2016-04-15 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: 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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