Is LARS2 c.(?_2533 pathogenic?

LARS2 c.(?2533 is classified Likely pathogenic in LARS2 (ClinVar, Single submitter, 1 submitter; last evaluated 2017-06-22). Associated with Rare genetic deafness.

What condition is associated with LARS2 c.(?_2533?

LARS2 c.(?_2533 is associated with Rare genetic deafness (ClinVar).

LARS2 c.(?_2533

VCV517278

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

Conditions

Rare genetic deafness

Computational evidence

Protein change
Missense predictors do not apply to this variant type.

Variant & gene context

Gene: LARS2
Coding: c.(?_2533
MANE Select: NM_015340
Type: Deletion
Location: chr3:None (GRCh38)
Gene constraint: LOEUF 0.808 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 90.57

Full LARS2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Rare genetic deafness — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

LARS2 p.Pro507Arg Conflicting classifications of pathogenicity ★ ⚠ same condition
LARS2 p.Ala430fs Pathogenic/Likely pathogenic ★★ same type
LARS2 p.Asp371fs Pathogenic ★★ same type
LARS2 p.Lys514fs Pathogenic ★★ same type
LARS2 p.Gly127fs Pathogenic ★ same type
LARS2 p.Ile360fs Pathogenic ★ same type
LARS2 p.Leu593fs Pathogenic ★ same type
LARS2 p.Lys445fs Likely pathogenic ★ same type

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/lars2-c-2533 (accessed [today's date]).

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