What condition is associated with DSG2 p.Leu29fs (c.86_87delinsATTCTATTGTTGTGCTATTGTTAT)?

DSG2 p.Leu29fs (c.86_87delinsATTCTATTGTTGTGCTATTGTTAT) is associated with Cardiovascular phenotype (ClinVar).

How common is DSG2 p.Leu29fs (c.86_87delinsATTCTATTGTTGTGCTATTGTTAT) in the general population?

DSG2 p.Leu29fs (c.86_87delinsATTCTATTGTTGTGCTATTGTTAT) is absent from gnomAD (gnomAD).

DSG2 p.Leu29fs

Q: Is DSG2 p.Leu29fs (c.86_87delinsATTCTATTGTTGTGCTATTGTTAT) pathogenic?

DSG2 p.Leu29fs (c.8687delinsATTCTATTGTTGTGCTATTGTTAT) is classified Pathogenic/Likely pathogenic in DSG2 (ClinVar, Multiple submitters, 2 submitters; last evaluated 2023-11-10). Absent from gnomAD; Associated with Cardiovascular phenotype.

c.86_87delinsATTCTATTGTTGTGCTATTGTTAT · rs794728100 · VCV199834

Pathogenic/Likely pathogenic Multiple submitters

Classification

Pathogenic/Likely pathogenic

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

Cardiovascular phenotype

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function
NMD	predicted	premature termination codon in exon 3 of 15
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 4.1	phastCons 1

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: DSG2
Protein: p.Leu29fs
Coding: c.86_87delinsATTCTATTGTTGTGCTATTGTTAT
MANE Select: NM_001943
dbSNP: rs794728100
Type: Indel
Location: chr18:31519807 (GRCh38)
Gene constraint: LOEUF 0.764 · pLI <0.01 · ClinGen HI 2/3 (gnomAD)
Structure: AlphaFold pLDDT 65.27 · 12 PDB

Full DSG2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Cardiovascular phenotype — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

DSG2 p.Leu29Ser Conflicting classifications of pathogenicity ★ ⚠ same residue
DSG2 p.Val288Leu Uncertain significance ★★ same condition
DSG2 p.Ala313_Ser314delinsGluMetLysGluValIleSerPheIleTer Pathogenic ★ same condition
DSG2 p.Glu713Thr Uncertain significance ★ same condition
DSG2 p.Gly1094_His1095delinsValAsn Conflicting classifications of pathogenicity ★ same condition
DSG2 p.Leu29Phe Uncertain significance ★ ⚠ same residue
DSG2 p.Arg46Trp Pathogenic/Likely pathogenic ★★ same condition
DSG2 p.Asn266Ser Likely pathogenic ★★ same condition

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/dsg2-p-leu29fs (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown