Is MIA3 p.Val192= (c.576A>G) pathogenic?

MIA3 p.Val192= (c.576A>G) is classified Likely benign in MIA3 (ClinVar, Single submitter, 1 submitter; last evaluated 2025-10-29). Absent from gnomAD v4.1; Associated with Inborn genetic diseases.

What condition is associated with MIA3 p.Val192= (c.576A>G)?

MIA3 p.Val192= (c.576A>G) is associated with Inborn genetic diseases (ClinVar).

How common is MIA3 p.Val192= (c.576A>G) in the general population?

MIA3 p.Val192= (c.576A>G) is absent from gnomAD v4.1 (gnomAD).

MIA3 p.Val192=

c.576A>G · VCV4624978

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

Inborn genetic diseases

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 -3.5	GERP -3.4
Overall
CADD	0.076	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: MIA3
Protein: p.Val192=
Coding: c.576A>G
MANE Select: NM_198551
Type: single nucleotide variant
Location: chr1:222627796 (GRCh38)
Gene constraint: LOEUF 0.551 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 52.49 · 4 PDB
Residue 192: the 'disordered' region

Full MIA3 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

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

Similar variants

MIA3 p.Arg1809His Uncertain significance ★★ ⚠ same condition
MIA3 p.Thr791Arg Uncertain significance ★★ ⚠ same condition
MIA3 p.Thr910Ala Uncertain significance ★★ ⚠ same condition
MIA3 p.Val648Ala Uncertain significance ★★ ⚠ same condition
MIA3 p.Ala1054Thr Uncertain significance ★ ⚠ same condition
MIA3 p.Ala1133Ser Uncertain significance ★ ⚠ same condition
MIA3 p.Ala1133Thr Uncertain significance ★ ⚠ same condition
MIA3 p.Ala1145Thr Uncertain significance ★ ⚠ 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/mia3-p-val192 (accessed [today's date]).

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