ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.500del (p.Glu167fs)

dbSNP: rs1555321294
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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 RCV000525648 SCV000650051 pathogenic Rett syndrome, congenital variant 2017-05-30 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. A different truncation downstream of this variant (p.Gly169Alafs*23) has been determined to be pathogenic (PMID: 25356899, Invitae). This suggests that deletion of this region of the FOXG1 protein is causative of disease. This variant has not been reported in the literature in individuals with a FOXG1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the FOXG1 gene (p.Glu167Glyfs*25). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 323 amino acids of the FOXG1 protein.
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV000525648 SCV002577595 pathogenic Rett syndrome, congenital variant 2022-03-23 criteria provided, single submitter clinical testing PVS1, PM2, PP5

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