ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.142C>T (p.His48Tyr)

dbSNP: rs1183504841
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003340893 SCV004047713 uncertain significance Rett syndrome, congenital variant criteria provided, single submitter clinical testing The missense variant c.142C>T (p.His48Tyr) in FOXG1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid Histidine at position 48 is changed to a Tyrosine changing protein sequence and it might alter its composition and physico-chemical properties. The residue is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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