ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.1086G>A (p.Leu362=)

dbSNP: rs570981209
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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 RCV003235066 SCV003933683 benign FOXG1 disorder 2023-04-14 reviewed by expert panel curation The allele frequency of the p.Leu362= variant in FOXG1 is 0.14% in South Asian sub population in gnomAD, which is high enough to be classified as benign based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BA1). In summary, the p.Leu362= variant in FOXG1 is classified as benign based on the ACMG/AMP criteria (BA1).
Genetic Services Laboratory, University of Chicago RCV000346273 SCV000193127 benign not specified 2017-11-10 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000725791 SCV000339430 uncertain significance not provided 2016-02-13 criteria provided, single submitter clinical testing
GeneDx RCV000346273 SCV000513080 benign not specified 2016-07-25 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 RCV000145979 SCV001010850 benign Rett syndrome, congenital variant 2024-01-21 criteria provided, single submitter clinical testing

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