Is LMNA p.Arg482= (c.1444C>A) pathogenic?

LMNA p.Arg482= (c.1444C>A) is classified Likely benign in LMNA (ClinVar, Single submitter, 1 submitter; last evaluated 2024-04-25). Absent from gnomAD v4.1; Associated with dilated cardiomyopathy.

What condition is associated with LMNA p.Arg482= (c.1444C>A)?

LMNA p.Arg482= (c.1444C>A) is associated with dilated cardiomyopathy (ClinVar).

How common is LMNA p.Arg482= (c.1444C>A) in the general population?

LMNA p.Arg482= (c.1444C>A) is absent from gnomAD v4.1 (gnomAD).

LMNA p.Arg482=

c.1444C>A · VCV3387012

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

dilated cardiomyopathy

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 5.9	GERP 1.3, phastCons 1
Overall
CADD	16.72	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: LMNA
Protein: p.Arg482=
Coding: c.1444C>A
MANE Select: NM_170707
Type: single nucleotide variant
Location: chr1:156136984 (GRCh38)
Gene constraint: LOEUF 0.412 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 77.55 · 28 PDB
Residue 482: the 'tail' region; a UniProt-annotated variant site (in fpld2; abnormal nuclear localization in a honeycomb expression pattern in about 10% of cultured skin fibroblasts from heterozygous patients; no effect on protein level); a UniProt-annotated variant site (in fpld2; interacts with itself and with wild-type lmna and lmnb1; no decrease in the stability compared with wild-type); a UniProt-annotated variant site (in fpld2; interacts with itself and with wild-type lmna and lmnb1; no decrease in the stability compared with wild-type; decreases binding affinity for dna; increases sensitivity to oxidative stress); a β-strand; the ltd domain

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

Disease context

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

Similar variants

LMNA p.Arg482Gln Conflicting classifications of pathogenicity ★ ⚠ same residue
LMNA p.Arg482Gly Pathogenic/Likely pathogenic ★★ same residue
LMNA p.Arg482Trp Pathogenic/Likely pathogenic ★★ same residue
LMNA p.Arg482Pro Likely pathogenic ★ same residue
LMNA p.Arg482Leu Conflicting classifications of pathogenicity ★ ⚠ same residue
LMNA c.1157+2T>A Pathogenic ★★ same condition
LMNA c.1609-1G>A Pathogenic/Likely pathogenic ★★ same condition
LMNA c.1609-3C>G Pathogenic/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/lmna-p-arg482 (accessed [today's date]).

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