ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.1135del (p.Leu379fs)

dbSNP: rs1881819022
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001222273 SCV001394367 pathogenic Rett syndrome, congenital variant 2023-06-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu379Serfs*6) in the FOXG1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 111 amino acid(s) of the FOXG1 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FOXG1-related conditions. ClinVar contains an entry for this variant (Variation ID: 950543). This variant disrupts a region of the FOXG1 protein in which other variant(s) (p.Ser468Leufs*20) have been determined to be pathogenic (PMID: 29852413, 30525188). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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