Evidence Repository
The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
  • Gene obtained from curated document aligns with the Allele Registry but not with ClinVar data
  • No CSPEC computed assertion could be determined for this classification!

Variant: NM_001083962.2(TCF4):c.1354G>A (p.Gly452Arg)

CA208027

212376 (ClinVar)

Gene: TCF4
Condition: Pitt-Hopkins syndrome
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: f723cb89-bb3d-472f-9a76-b328cc5f36cc
Approved on: 2025-05-07
Published on: 2025-06-30

HGVS expressions

NM_001083962.2:c.1354G>A
NM_001083962.2(TCF4):c.1354G>A (p.Gly452Arg)
NC_000018.10:g.55234680C>T
CM000680.2:g.55234680C>T
NC_000018.9:g.52901911C>T
CM000680.1:g.52901911C>T
NC_000018.8:g.51052909C>T
NG_011716.1:g.358950G>A
NG_011716.2:g.406314G>A
ENST00000354452.8:c.1354G>A
ENST00000630720.3:c.871G>A
ENST00000635822.2:c.1354G>A
ENST00000635990.2:n.1034G>A
ENST00000636400.2:c.1282G>A
ENST00000636751.2:c.*1062G>A
ENST00000636822.2:c.964G>A
ENST00000637115.2:c.*1244G>A
ENST00000637169.2:c.706G>A
ENST00000637239.2:n.1421G>A
ENST00000637250.2:n.1048G>A
ENST00000637923.2:c.952G>A
ENST00000638154.3:c.1381G>A
ENST00000643689.1:c.964G>A
ENST00000674764.1:c.*965G>A
ENST00000675707.1:c.964G>A
ENST00000354452.7:c.1354G>A
ENST00000356073.8:c.1354G>A
ENST00000398339.5:c.1660G>A
ENST00000457482.7:c.874G>A
ENST00000537578.5:c.1282G>A
ENST00000537856.7:c.964G>A
ENST00000540999.5:c.1282G>A
ENST00000543082.5:c.1228G>A
ENST00000544241.6:c.1141G>A
ENST00000561831.7:c.874G>A
ENST00000561992.5:c.964G>A
ENST00000562680.5:n.1445G>A
ENST00000564228.5:c.1141G>A
ENST00000564403.6:c.1372G>A
ENST00000564999.5:c.1354G>A
ENST00000565018.6:c.1102G>A
ENST00000566279.5:c.1174G>A
ENST00000566286.5:c.1345G>A
ENST00000567880.5:c.1174G>A
ENST00000568673.5:c.1282G>A
ENST00000568740.5:c.1279G>A
ENST00000570177.6:c.964G>A
ENST00000570287.6:c.874G>A
ENST00000616053.4:c.1102G>A
ENST00000626466.1:n.389G>A
ENST00000626584.2:c.706G>A
ENST00000629387.2:c.1354G>A
ENST00000630720.2:c.871G>A
NM_001083962.1:c.1354G>A
NM_001243226.2:c.1660G>A
NM_001243227.1:c.1282G>A
NM_001243228.1:c.1372G>A
NM_001243230.1:c.1345G>A
NM_001243231.1:c.1228G>A
NM_001243232.1:c.1141G>A
NM_001243233.1:c.964G>A
NM_001243234.1:c.874G>A
NM_001243235.1:c.874G>A
NM_001243236.1:c.874G>A
NM_001306207.1:c.1282G>A
NM_001306208.1:c.1141G>A
NM_003199.2:c.1354G>A
NM_001330604.2:c.1351G>A
NM_001330605.2:c.964G>A
NM_001348211.1:c.1228G>A
NM_001348212.1:c.964G>A
NM_001348213.1:c.964G>A
NM_001348214.1:c.871G>A
NM_001348215.1:c.706G>A
NM_001348216.1:c.874G>A
NM_001348217.1:c.1282G>A
NM_001348218.1:c.1282G>A
NM_001348219.1:c.1282G>A
NM_001348220.1:c.1279G>A
NM_001243226.3:c.1660G>A
NM_001243227.2:c.1282G>A
NM_001243228.2:c.1372G>A
NM_001243231.2:c.1228G>A
NM_001243233.2:c.964G>A
NM_001243234.2:c.874G>A
NM_001243235.2:c.874G>A
NM_001243236.2:c.874G>A
NM_001330604.3:c.1351G>A
NM_001330605.3:c.964G>A
NM_001348211.2:c.1228G>A
NM_001348212.2:c.964G>A
NM_001348213.2:c.964G>A
NM_001348214.2:c.871G>A
NM_001348215.2:c.706G>A
NM_001348216.2:c.874G>A
NM_001348218.2:c.1282G>A
NM_001348219.2:c.1282G>A
NM_001369567.1:c.1354G>A
NM_001369568.1:c.1354G>A
NM_001369569.1:c.1351G>A
NM_001369570.1:c.1351G>A
NM_001369571.1:c.1354G>A
NM_001369572.1:c.1354G>A
NM_001369573.1:c.1351G>A
NM_001369574.1:c.1351G>A
NM_001369575.1:c.1282G>A
NM_001369576.1:c.1279G>A
NM_001369577.1:c.1279G>A
NM_001369578.1:c.1279G>A
NM_001369579.1:c.1279G>A
NM_001369580.1:c.1279G>A
NM_001369581.1:c.1279G>A
NM_001369582.1:c.1282G>A
NM_001369583.1:c.1282G>A
NM_001369584.1:c.1279G>A
NM_001369585.1:c.1279G>A
NM_001369586.1:c.1285G>A
NM_003199.3:c.1354G>A
NM_001243230.2:c.1345G>A
More

Uncertain Significance

Met criteria codes 1
BS1
Not Met criteria codes 1
PP3

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specification: ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for TCF4 Version 4.0.0

Criteria Specification Approval History
Criteria Specifications for this VCEP
Evidence submitted by expert panel
Rett and Angelman-like Disorders VCEP
The highest population minor allele frequency of the p.Gly452Arg variant in TCF4 in gnomAD v4.1 is 0.0001120 in "remaining" populations, which is higher than the ClinGen Rett and Angelman-like Disorders VCEP threshold (≥0.00008) for BS1, and therefore meets this criterion (BS1). Computational prediction analysis tools are inconclusive for this variant. The p.Gly452Arg variant is not currently published and is not present in additional databases (internal and publicly available), therefore, no additional criteria are applicable at this time. In summary, the p.Gly452Arg variant in TCF4 is classified as a variant of uncertain significance based on the ACMG/AMP criteria (BS1). (TCF4 Specifications v.4.0; curation approved on [5/7/2025])
Met criteria codes
BS1
The highest population minor allele frequency of the p.Gly452Arg variant in TCF4 in gnomAD v4.1 is 0.0001120 in "remaining" populations, which is higher than the ClinGen Rett and Angelman-like Disorders VCEP threshold (≥0.00008) for BS1, and therefore meets this criterion (BS1).
Not Met criteria codes
PP3
Computational prediction analysis tools are inconclusive for this variant.
Curation History
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