ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.298del (p.Gln100fs) (rs587783636)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000145988 SCV000193137 pathogenic Rett syndrome, congenital variant 2013-02-08 criteria provided, single submitter clinical testing
GeneDx RCV000187476 SCV000241069 pathogenic not provided 2018-06-22 criteria provided, single submitter clinical testing The c.298delC variant in the FOXG1 gene has been reported previously as a de novo variant in an individual with seizures, intellectual disability, and microcephaly (Cellini et al., 2016). The c.298delC variant causes a frameshift starting with codon Glutamine 100, changes this amino acid to a Serine residue, and creates a premature Stop codon at position 92 of the new reading frame, denoted p.Gln100SerfsX92. This variant is predicted to cause loss of normal protein function through protein truncation. The c.298delC variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.298delC as a pathogenic variant.

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