Evidence Repository - Clinical Genome Resources

The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

Variant: NM_005249.5(FOXG1):c.670G>A (p.Gly224Ser)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA234034

167092 (ClinVar)

Gene: FOXG1

Condition: FOXG1 disorder

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 19e564c0-0f26-42d4-8dcc-709b295fda70

Approved on: 2022-02-18

Published on: 2022-06-30

HGVS expressions

NM_005249.5:c.670G>A

NM_005249.5(FOXG1):c.670G>A (p.Gly224Ser)

NC_000014.9:g.28767949G>A

CM000676.2:g.28767949G>A

NC_000014.8:g.29237155G>A

CM000676.1:g.29237155G>A

NC_000014.7:g.28306906G>A

NG_009367.1:g.5869G>A

ENST00000313071.7:c.670G>A

ENST00000313071.6:c.670G>A

NM_005249.4:c.670G>A

Likely Pathogenic

PS4_Supporting PM2_Supporting PM1 PM6

Evidence Links 0

Expert Panel

Rett and Angelman-like Disorders VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Rett and Angelman-like Disorders VCEP

The p.Gly224Ser variant in FOXG1 is located in the well-characterized Forkhead functional domain (PMID 18571142, 28661489)(PM1). The p.Gly224Ser variant in FOXG1 occurs in the de novo state (biological parentage unconfirmed) in an individual with gross motor delay and infantile spasms (GeneDx internal database)(PM6). The p.Gly224Ser variant in FOXG1 is absent in gnomAD (PM2_supporting). The p.Gly224Ser variant has been observed in 2 individuals with neurodevelopmental disease (GeneDx internal database, University of Chicago internal database)(PS4_supporting). In summary, the p.Gly224Ser variant in FOXG1 is classified as likely pathogenic based on the ACMG/AMP criteria (PM1, PM6, PM2_supporting, PS4_supporting).

PS4_Supporting

The p.Gly224Ser variant has been observed in 2 individuals with neurodevelopmental disease (GeneDx internal database, University of Chicago internal database).

PM2_Supporting

The p.Gly224Ser variant in FOXG1 is absent in gnomAD.

PM1

The p.Gly224Ser variant in FOXG1 is located in the well-characterized Forkhead functional domain (PMID 18571142, 28661489).

PM6

The p.Gly224Ser variant in FOXG1 occurs in the de novo state (biological parentage unconfirmed) in an individual with gross motor delay and infantile spasms (GeneDx internal database).

Curation History

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