ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.1399C>T (p.Leu467=)

gnomAD frequency: 0.00006  dbSNP: rs371279404
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187448 SCV000241041 benign not specified 2014-08-15 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 RCV000648319 SCV000770134 likely benign Rett syndrome, congenital variant 2023-09-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002390492 SCV002697698 likely benign Inborn genetic diseases 2020-06-26 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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