ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.181C>T (p.Pro61Ser)

gnomAD frequency: 0.00021  dbSNP: rs762634382
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000584984 SCV000241019 likely benign not provided 2020-11-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000584984 SCV000692783 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing FOXG1: PP2, BS1
Invitae RCV001088781 SCV001004016 benign Rett syndrome, congenital variant 2023-12-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV003298246 SCV004007800 likely benign Inborn genetic diseases 2023-04-25 criteria provided, single submitter clinical testing This alteration is classified as likely 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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