ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.1058A>G (p.Asn353Ser)

gnomAD frequency: 0.00001  dbSNP: rs749879411
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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 RCV004819245 SCV005440657 benign FOXG1 disorder 2024-10-30 reviewed by expert panel curation The highest population minor allele frequency of the p.Asn353Ser variant in FOXG1 in gnomAD v4.1 is 0.0003074 in the South Asian population, which is higher than the ClinGen Rett and Angelman-like Disorders VCEP threshold (≥0.0003) for BA1, and therefore meets this criterion (BA1). The p.Asn353Ser variant in FOXG1 has been reported as a de novo occurrence (biological parentage unconfirmed) in an individual with progressive myoclonic epilepsy (PMID 29933521) (PM6). In summary, this variant meets the criteria to be classified as Benign. Although there are both pathogenic and benign types of evidence for this variant, the pathogenic evidence is not considered inconsistent with the final classification. ACMG/AMP criteria applied, as specified by the ClinGen Rett/Angelman-like expert panel: BA1, PM6. (FOXG1 Specifications Version 3.0.0; 10/30/2024).
Labcorp Genetics (formerly Invitae), Labcorp RCV002166653 SCV002474671 likely benign Rett syndrome, congenital variant 2023-10-13 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV002166653 SCV003833647 uncertain significance Rett syndrome, congenital variant 2020-10-02 criteria provided, single submitter clinical testing

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