Is MITF c.(?_938 pathogenic?

MITF c.(?938 is classified Pathogenic in MITF (ClinVar, Single submitter, 1 submitter; last evaluated 2015-08-04). Associated with Rare genetic deafness.

What condition is associated with MITF c.(?_938?

MITF c.(?_938 is associated with Rare genetic deafness (ClinVar).

MITF c.(?_938

VCV228361

Pathogenic Single submitter

Classification

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: MITF
Coding: c.(?_938
MANE Select: NM_001354604 · reported on NM_198159
Type: Deletion
Location: chr3:None (GRCh38)
Gene constraint: LOEUF 0.482 · pLI 0.99 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 62.25 · 12 PDB

Full MITF 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

MITF p.Ser235Ter Pathogenic ★★ same condition
MITF p.Trp348Ter Pathogenic ★ same condition
MITF p.Asp225fs Pathogenic ★★ same type
MITF p.Pro272fs Pathogenic ★★ same type
MITF c.660_666+6del Likely pathogenic ★ same type
MITF c.880+1del Pathogenic ★ same type
MITF c.953_955+3del Likely pathogenic ★ same type
MITF p.Ala305fs 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/mitf-c-938 (accessed [today's date]).

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