ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.1178C>G (p.Ser393Trp)

dbSNP: rs1085307753
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489047 SCV000577220 pathogenic not provided 2022-12-16 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Missense variant in a gene in which most reported pathogenic variants are truncating/loss of function; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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