Variant
DSP E1265X
NM_004415.4(DSP):c.3793G>T (p.Glu1265Ter)
- p.Glu1265Ter
- p.E1265*
- rs1554108172
- ClinVar classification
- Pathogenic
- Review status
- 2 stars out of 4criteria provided, multiple submitters, no conflicts
- Last evaluated
- 17 August 2025
Data current to ClinVar release 2026-10-12 · Dante Labs data release 2026.10.16-c6eea6bfFacts last changed 16 October 2026
Reference genomeGRCh38hg38
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Summary
E1265X is a nonsense variant in DSP: it creates an early stop signal, so the protein the gene encodes is predicted to be cut short. ClinVar classifies it as pathogenic for arrhythmogenic cardiomyopathy with wooly hair and keratoderma (criteria provided, multiple submitters, no conflicts).
ClinVar classifications
| Condition | Classification | Review status | Submissions | Last evaluated |
|---|---|---|---|---|
| arrhythmogenic cardiomyopathy with wooly hair and keratodermaClinVar VCV000523474 (opens in a new tab) | Pathogenic | 2 stars out of 4criteria provided, multiple submitters, no conflicts | 2 submissions | 17 August 2025 |
Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed.
Where it lies in DSP
E1265X lies in exon 23 of the 24 in DSP's MANE Select transcript, NM_004415.4.
Molecular details
| Gene | DSP |
|---|---|
| Transcript | NM_004415.4MANE Select |
| Coding DNA change (HGVS c.) | c.3793G>T |
| Protein change (HGVS p.) | p.Glu1265Terp.E1265* |
| Predicted consequence | Nonsense (stop gained)stop_gained (opens in a new tab) |
| Predicted impact | High |
| Position (GRCh38) | chr6:7579983 G>T |
| Position (GRCh37) | chr6:7580216 G>T |
| dbSNP ID | rs1554108172 (opens in a new tab) |
| ClinVar Variation ID | VCV000523474 (opens in a new tab) |
| ClinVar Allele ID | 513967 |
| ClinGen Allele Registry ID | CA362684869 (opens in a new tab) |
| ClinVar name | NM_004415.4(DSP):c.3793G>T (p.Glu1265Ter) |
DSP E1265X in other databases
Reports that look at this variant (1)
These Genome Test condition reports include E1265X among the variants they look at.
| Report | Conditions | Inheritance |
|---|---|---|
| Arrhythmogenic Cardiomyopathy | Cardioectodermal Syndromes (Naxos Disease and Carvajal Syndrome) |
Other variants in DSP
- c.170+1G>ALikely pathogenic2 stars out of 4
- c.273+1G>ALikely pathogenic2 stars out of 4
- c.939+1G>APathogenic2 stars out of 4
- c.1574+1G>ALikely pathogenic2 stars out of 4
- c.2130+1G>ALikely pathogenic2 stars out of 4
- c.2298-2A>CPathogenic/likely pathogenic2 stars out of 4
- c.2436+2T>CLikely pathogenic2 stars out of 4
- c.2437-1G>CLikely pathogenic2 stars out of 4
- C2656Wfs*24Pathogenic/likely pathogenic2 stars out of 4
- D1248Kfs*7Pathogenic2 stars out of 4
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
Dante Labs. (16 October 2026). DSP E1265X (c.3793G>T, rs1554108172) (Version 2026.10.16-c6eea6bf). Retrieved 17 October 2026, from https://dantelabs.com/genes/dsp/variants/e1265x
Dante Labs. DSP E1265X (c.3793G>T, rs1554108172) [Internet]. Version 2026.10.16-c6eea6bf. 16 October 2026 [cited 17 October 2026]. Available from: https://dantelabs.com/genes/dsp/variants/e1265x
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