DSP E660Kfs*2 (c.1978_1979del, rs2533896507)

Dante Labs

Sequence your genome

Variant

DSP E660Kfs*2

NM_004415.4(DSP):c.1978_1979del (p.Glu660LysfsTer2)

Also known as

p.Glu660LysfsTer2
p.E660Kfs*2
rs2533896507

ClinVar classification: Pathogenic/likely pathogenic
Review status: 2 stars out of 4criteria provided, multiple submitters, no conflicts
Last evaluated: 3 May 2023

Data current to ClinVar release 2026-10-12 · Dante Labs data release 2026.10.19-9814e911Facts last changed 18 October 2026

This page as data

Add .json to the page's address, or ask for application/json, to read it as JSON.

library(jsonlite)

url <- "https://dantelabs.com/genes/dsp/variants/e660kfs2.json"
page <- fromJSON(url)
page$variant$name

Open the JSON

Summary

E660Kfs*2 is a frameshift variant in DSP: it adds or removes DNA letters in a way that shifts how the rest of the gene's code is read. ClinVar classifies it as pathogenic or likely 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 VCV002775277 (opens in a new tab)	Pathogenic/likely pathogenic	2 stars out of 4criteria provided, multiple submitters, no conflicts	2 submissions	3 May 2023

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

ACMG/AMP criteria

The ACMG/AMP criteria E660Kfs*2 meets, from its predicted effect in DSP, gnomAD and ClinVar.

Criterion	Strength	Rests on
PVS1Null variant where loss of function causes disease	Very strong	frameshift_variant on NM_004415.4
PM2Absent or very rare in population databases	Supporting	Not seen in gnomAD exomes, gnomAD genomes
PP5A reputable source reports it as pathogenic	Supporting	ClinVar: Pathogenic/likely pathogenic (criteria provided, multiple submitters, no conflicts)

On these criteria alone: pathogenic.

Assessed automatically, without functional, computational or family evidence. Not a clinical classification.

Population frequency

How often E660Kfs*2 is seen among the people whose exomes and genomes gnomAD 4.1 brings together.

Dataset	Allele frequency	Allele count	Homozygotes	Commonest in
gnomAD exomes	Not seen	0 of 0	0
gnomAD genomes	Not seen	0 of 0	0

Figures from gnomAD 4.1, as gnomAD publishes them. Groups are genetic ancestry groups as gnomAD infers them. They describe the variant in gnomAD's populations, not anyone's result.

E660Kfs*2 in the gnomAD browser (opens in a new tab)

Where it lies in DSP

E660Kfs*2 lies in exon 15 of the 24 in DSP's MANE Select transcript, NM_004415.4.

DSP variants in exon 15 →DSP's gene diagram →

Molecular details

Gene	DSP
Transcript	NM_004415.4MANE Select
Coding DNA change (HGVS c.)	c.1978_1979del
Protein change (HGVS p.)	p.Glu660LysfsTer2p.E660Kfs*2
Predicted consequence	Frameshiftframeshift_variant (opens in a new tab)frameshift_truncation (opens in a new tab)
Predicted impact	High
Position (GRCh38)	chr6:7571912 CAG>C
Position (GRCh37)	chr6:7572145 CAG>C
dbSNP ID	rs2533896507 (opens in a new tab)
ClinVar Variation ID	VCV002775277 (opens in a new tab)
ClinVar Allele ID	2936000
ClinGen Allele Registry ID	CA2697546619 (opens in a new tab)
ClinVar name	NM_004415.4(DSP):c.1978_1979del (p.Glu660fs)

DSP E660Kfs*2 in other databases

Reports that look at this variant (1)

These Genome Test condition reports include E660Kfs*2 among the variants they look at.

Report	Conditions	Inheritance
Arrhythmogenic Cardiomyopathy	Cardioectodermal Syndromes (Naxos Disease and Carvajal Syndrome)

All DSP 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 2026-10-19-c4908f54).
Reference SNP identifiers from dbSNP (release b157), National Center for Biotechnology Information.
Gene–disease links from the Gene Curation Coalition, GenCC (release 2026-10-19).
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 2026.10.19-9814e911 of 19 October 2026.

Cite this page

APA

Dante Labs. (18 October 2026). DSP E660Kfs*2 (c.1978_1979del, rs2533896507) (Version 2026.10.19-9814e911). Retrieved 20 October 2026, from https://dantelabs.com/genes/dsp/variants/e660kfs2

Vancouver

Dante Labs. DSP E660Kfs*2 (c.1978_1979del, rs2533896507) [Internet]. Version 2026.10.19-9814e911. 18 October 2026 [cited 20 October 2026]. Available from: https://dantelabs.com/genes/dsp/variants/e660kfs2

Download citationRIS BibTeX CSL-JSON

Read your whole genome

From $449Free shipping · Results in 6–8 weeks

Explore the Genome Test