TCF4 V581F (c.1741G>T, rs587784460)

Dante Labs

Variant

TCF4 V581F

NM_001083962.2(TCF4):c.1741G>T (p.Val581Phe)

Also known as

p.Val581Phe
p.V581F
rs587784460

ClinVar classification: Likely pathogenic
Review status: 3 stars out of 4reviewed by expert panel
Last evaluated: 18 February 2022
Expert panel: ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel

Data current to ClinVar release 2026-10-12 · Dante Labs data release 2026.10.16-c6eea6bfFacts last changed 16 October 2026

Reference genomeGRCh38hg38

Positions on gene and variant pages follow this choice, in this browser.

Summary

V581F is a missense variant in TCF4: it changes a single amino acid in the protein the gene encodes. ClinVar classifies it as likely pathogenic for Pitt-Hopkins syndrome (reviewed by expert panel).

ClinVar classifications

Condition	Classification	Review status	Submissions	Last evaluated
Pitt-Hopkins syndromeClinVar VCV000160079 (opens in a new tab)	Likely pathogenic	3 stars out of 4reviewed by expert panel	1 submission	18 February 2022

Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed.

Molecular details

Gene	TCF4
Transcript	NM_001083962.2MANE Select
Coding DNA change (HGVS c.)	c.1741G>T
Protein change (HGVS p.)	p.Val581Phep.V581F
Predicted consequence	Missensemissense_variant (opens in a new tab)
Predicted impact	Moderate
Position (GRCh38)	chr18:55228985 C>A
Position (GRCh37)	chr18:52896216 C>A
dbSNP ID	rs587784460 (opens in a new tab)
ClinVar Variation ID	VCV000160079 (opens in a new tab)
ClinVar Allele ID	169440
ClinGen Allele Registry ID	CA272702 (opens in a new tab)
ClinVar name	NM_001083962.2(TCF4):c.1741G>T (p.Val581Phe)

TCF4 V581F in other databases

Reports that look at this variant (1)

These Genome Test condition reports include V581F among the variants they look at.

Report	Conditions	Inheritance
Intellectual Disability	Pitt-Hopkins syndrome	Autosomal dominant

All TCF4 variants

Limitations

This page describes publicly available information about a genetic variant. It is not a diagnosis, and it says nothing about whether you or anyone else carries this variant.

Classifications come from ClinVar and change as new evidence is reviewed. A classification here may differ from the one in ClinVar today, or from the one a laboratory reports.

Whole genome sequencing with short reads can miss or miscall some variants, particularly in repeated or highly similar stretches of DNA and in large insertions, deletions or rearrangements.

If you have questions about a variant in your own results or in your family, talk to a genetic counsellor or your doctor.

Sources & credits

Classifications from ClinVar (release 2026-10-12), National Center for Biotechnology Information.
Condition terms from the Mondo Disease Ontology (release 2026-10-06), used under CC BY 4.0.
Gene symbols and names from the HUGO Gene Nomenclature Committee (release 2026-10-16).
Allele identifiers from the ClinGen Allele Registry (release 2026-10-16-c4908f54).
Reference SNP identifiers from dbSNP (release b157), National Center for Biotechnology Information.
Gene–disease links from the Gene Curation Coalition, GenCC (release 2026-10-16).
Difficult regions from the Genome in a Bottle Consortium (release v3.6).
Transcripts from MANE (release v1.5), NCBI and EMBL-EBI.
Predicted consequences from mehari (release 0.11.0), with transcript models from cdot.
Built from Dante Labs data release 2026.10.16-c6eea6bf of 16 October 2026.

Cite this page

APA

Dante Labs. (16 October 2026). TCF4 V581F (c.1741G>T, rs587784460) (Version 2026.10.16-c6eea6bf). Retrieved 16 October 2026, from https://dantelabs.com/genes/tcf4/variants/v581f

Vancouver

Dante Labs. TCF4 V581F (c.1741G>T, rs587784460) [Internet]. Version 2026.10.16-c6eea6bf. 16 October 2026 [cited 16 October 2026]. Available from: https://dantelabs.com/genes/tcf4/variants/v581f

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