ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.1273T>C (p.Ser425Pro)

gnomAD frequency: 0.00004  dbSNP: rs780242359
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Total submissions: 4
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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 RCV004584206 SCV005068287 benign FOXG1 disorder 2024-04-18 reviewed by expert panel curation The p.Ser425Pro variant in FOXG1 is present in one XX and one XY individual in gnomAD v2.1.1 (0.00176%) (not sufficient to meet BS1 criteria). The p.Ser425Pro variant is observed in at least 2 unaffected individuals (GeneDx internal database) (BS2). The p.Ser425Pro variant is found in at least 3 patients with an alternate molecular basis of disease (GeneDx internal database) (BP5_Strong). In summary, the p.Ser425Pro variant in FOXG1 is classified as benign based on the ACMG/AMP criteria (BS2, BP5_strong).
GeneDx RCV000711707 SCV000241039 likely benign not provided 2020-12-15 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000711707 SCV000842094 uncertain significance not provided 2018-04-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001246869 SCV001420258 likely benign Rett syndrome, congenital variant 2023-10-18 criteria provided, single submitter clinical testing

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