ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.1045T>G (p.Ser349Ala)

gnomAD frequency: 0.00004  dbSNP: rs796052472
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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 RCV004584207 SCV005068288 likely benign FOXG1 disorder 2024-04-18 reviewed by expert panel curation The p.Ser349Ala variant in FOXG1 is present in one XX and three XY individuals in gnomAD v2.1.1 (0.001418%) (not sufficient to meet BS1 criteria). The p.Ser349Ala variant is observed in at least 2 unaffected individuals (GeneDx internal database) (BS2). The p.Ser349Ala variant is found in a patient with an alternate molecular basis of disease (GeneDx internal database) (BP5). In summary, the p.Ser349Ala variant in FOXG1 is classified as likely benign based on the ACMG/AMP criteria (BS2, BP5).
GeneDx RCV000428947 SCV000241064 likely benign not provided 2021-01-26 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000428947 SCV000511655 uncertain significance not provided 2017-01-04 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Eurofins Ntd Llc (ga) RCV000428947 SCV000708708 uncertain significance not provided 2017-05-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001210916 SCV001382431 uncertain significance Rett syndrome, congenital variant 2022-11-15 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt FOXG1 protein function. ClinVar contains an entry for this variant (Variation ID: 205497). This variant has not been reported in the literature in individuals affected with FOXG1-related conditions. This variant is present in population databases (rs796052472, gnomAD 0.002%). This sequence change replaces serine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 349 of the FOXG1 protein (p.Ser349Ala).

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