ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.475G>A (p.Ala159Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002578714 SCV002941332 benign Rett syndrome, congenital variant 2022-09-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003395493 SCV004111237 uncertain significance FOXG1-related disorder 2022-12-08 criteria provided, single submitter clinical testing The FOXG1 c.475G>A variant is predicted to result in the amino acid substitution p.Ala159Thr. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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