ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.852G>A (p.Leu284=)

gnomAD frequency: 0.00016  dbSNP: rs537686463
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001718829 SCV000513079 likely benign not provided 2021-01-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002314144 SCV000849142 likely benign Inborn genetic diseases 2017-02-28 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000862904 SCV001003470 likely benign Rett syndrome, congenital variant 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001718829 SCV004129157 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing FOXG1: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003972574 SCV004787085 likely benign FOXG1-related disorder 2019-02-22 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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