ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.1119G>A (p.Pro373=)

gnomAD frequency: 0.00001  dbSNP: rs538358023
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Total submissions: 3
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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 RCV003448295 SCV004175928 likely benign FOXG1 disorder 2023-10-13 reviewed by expert panel curation The c.1119G>A (p.Pro373=) variant is found in at least 3 patients with an alternate molecular basis of disease (internal database - Invitae) (BP5_strong). The c.1119G>A (p.Pro373=) variant is observed in at least 1 unaffected individuals (internal database - Invitae) (BS2_supporting). Splice prediction analysis, using multiple computational tools does not suggest an impact to splicing (BP4). In summary, the c.1119G>A (p.Pro373=) variant in FOXG1 is classified as Likely Benign based on the ACMG/AMP criteria (BP5_strong, BS2_supporting, BP4).
Eurofins Ntd Llc (ga) RCV000326572 SCV000335408 uncertain significance not provided 2015-10-06 criteria provided, single submitter clinical testing
Invitae RCV001450627 SCV001654240 likely benign Rett syndrome, congenital variant 2022-10-28 criteria provided, single submitter clinical testing

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