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Variant: NM_005249.5(FOXG1):c.573G>A (p.Met191Ile)

CA389475390

452682 (ClinVar)

Gene: FOXG1
Condition: FOXG1 disorder
Inheritance Mode: Autosomal dominant inheritance
UUID: 8fe613d8-a9ab-40ae-9680-9983e488b1d3
Approved on: 2023-04-14
Published on: 2023-06-16

HGVS expressions

NM_005249.5:c.573G>A
NM_005249.5(FOXG1):c.573G>A (p.Met191Ile)
NC_000014.9:g.28767852G>A
CM000676.2:g.28767852G>A
NC_000014.8:g.29237058G>A
CM000676.1:g.29237058G>A
NC_000014.7:g.28306809G>A
NG_009367.1:g.5772G>A
ENST00000313071.7:c.573G>A
ENST00000313071.6:c.573G>A
NM_005249.4:c.573G>A

Likely Pathogenic

Met criteria codes 4
PP3 PM2_Supporting PM5 PM1

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
Rett and Angelman-like Disorders VCEP
The p.Met191Ile variant occurs in the well-characterized Forkhead functional domain of the FOXG1 gene (PM1). The p.Met191Ile variant in FOXG1 is absent from gnomAD (PM2_supporting). Computational prediction analysis tools suggests a deleterious impact; however, this information does not predict clinical significance on its own (PP3). A pathogenic missense variant (p.Met191Arg) has been previously identified within this codon which indicates that this residue is critical to the function of the protein (PMID 26364767, 26993267) (PM5). In summary, the p.Met191Ile variant in FOXG1 is classified as likely pathogenic for a FOXG1-related disorder based on the ACMG/AMP criteria (PM1, PM2_supporting, PP3, PM5).
Met criteria codes
PP3
Computational prediction analysis tools suggests a deleterious impact; however, this information does not predict clinical significance on its own (PP3)
PM2_Supporting
The p.Met191Ile variant in FOXG1 is absent from gnomAD (PM2).
PM5
A pathogenic missense variant (p.Met191Arg) has been previously identified within this codon which indicates that this residue is critical to the function of the protein (PMID 26364767, 26993267)
PM1
The p.Met191Ile variant occurs in the well-characterized Forkhead functional domain of the FOXG1 gene (PM1).
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