Is DES p.Ser82del (c.239CCT[2]) pathogenic?

DES p.Ser82del (c.239CCT[2]) is classified Uncertain significance in DES (ClinVar, Single submitter, 1 submitter; last evaluated 2025-12-01). Absent from gnomAD; Associated with myofibrillar myopathy 1.

What condition is associated with DES p.Ser82del (c.239CCT[2])?

DES p.Ser82del (c.239CCT[2]) is associated with myofibrillar myopathy 1 (ClinVar).

How common is DES p.Ser82del (c.239CCT[2]) in the general population?

DES p.Ser82del (c.239CCT[2]) is absent from gnomAD (gnomAD).

How is Desminopathy inherited?

Typically Autosomal dominant, Autosomal recessive (Orphanet). A genetic counselor can assess individual risk for a family.

DES p.Ser82del

c.239CCT[2] · rs2545246778 · VCV1930596

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

myofibrillar myopathy 1

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 0.73	GERP -1.3, phastCons 0.075

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: DES
Protein: p.Ser82del
Coding: c.239CCT[2]
MANE Select: NM_001927
dbSNP: rs2545246778
Type: Microsatellite
Location: chr2:219418701 (GRCh38)
Gene constraint: LOEUF 0.81 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 77.73
Residue 82: the 'head' region

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

Disease context

myofibrillar myopathy 1 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Desminopathy (Orphanet):

Inheritance: Autosomal dominant, Autosomal recessive
Onset: Adolescent, Adult, Childhood, Infancy

Similar variants

DES p.Ser82Phe Uncertain significance ★★ ⚠ same residue
DES p.Ser82Pro Uncertain significance ★ ⚠ same residue
DES p.Arg163_Arg164insGluLeuArg Uncertain significance ★★ same condition
DES p.Glu373del Uncertain significance ★★ same condition
DES c.639+13_639+15del Likely benign ★★ same condition
DES p.Val176fs Pathogenic ★ same condition
DES p.Asn308del Uncertain significance ★ same condition
DES p.Asn366del Conflicting classifications of pathogenicity ★ 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/des-p-ser82del (accessed [today's date]).

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