Is LMOD2 p.Val485fs (c.1446_1453dup) pathogenic?

LMOD2 p.Val485fs (c.14461453dup) is classified Likely pathogenic in LMOD2 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-02-07). No gnomAD frequency available for this variant; Associated with cardiomyopathy, dilated, 2G.

What condition is associated with LMOD2 p.Val485fs (c.1446_1453dup)?

LMOD2 p.Val485fs (c.1446_1453dup) is associated with cardiomyopathy, dilated, 2G (ClinVar).

How common is LMOD2 p.Val485fs (c.1446_1453dup) in the general population?

LMOD2 p.Val485fs (c.1446_1453dup) is no gnomAD frequency available for this variant (gnomAD).

How is Familial isolated dilated cardiomyopathy inherited?

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

LMOD2 p.Val485fs

c.1446_1453dup · rs2536071477 · VCV2690637

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

cardiomyopathy, dilated, 2G

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 2 of 3
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 11	GERP 2, 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: LMOD2
Protein: p.Val485fs
Coding: c.1446_1453dup
MANE Select: NM_207163
dbSNP: rs2536071477
Type: Duplication
Location: chr7:123663024 (GRCh38)
Gene constraint: LOEUF 0.984 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 67.14 · 6 PDB
Residue 485: a UniProt-annotated variant site (in cmd2g; no protein detected by western blot in cardiac tissue from a homozygous patient); the 'interaction with actin 2' region; the 'disordered' region

Full LMOD2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

cardiomyopathy, dilated, 2G — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Familial isolated dilated cardiomyopathy (Orphanet):

Inheritance: Autosomal dominant, Autosomal recessive, Mitochondrial inheritance
Onset: All ages
Prevalence: 1-9 / 100 000 (Europe)

Similar variants

LMOD2 p.Val485Gly Uncertain significance ★ ⚠ same residue
LMOD2 p.Ala235fs Likely pathogenic ★ same condition
LMOD2 p.Arg513Ter Pathogenic ★ same condition
LMOD2 p.Arg7fs Likely pathogenic ★ same condition
LMOD2 p.Thr118_Glu119insGly Uncertain significance ★ same condition
LMOD2 c.273+1G>A Pathogenic same condition
LMOD2 p.Leu415fs Pathogenic same condition
LMOD2 p.Trp398Ter 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/lmod2-p-val485fs (accessed [today's date]).

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