Is MRTFB p.Arg104= (c.310C>A) pathogenic?

MRTFB p.Arg104= (c.310C>A) is classified Pathogenic in MRTFB (ClinVar, No assertion criteria, 1 submitter; last evaluated 2024-02-21). Absent from gnomAD v4.1; Associated with MRTFB-related disorder.

What condition is associated with MRTFB p.Arg104= (c.310C>A)?

MRTFB p.Arg104= (c.310C>A) is associated with MRTFB-related disorder (ClinVar).

How common is MRTFB p.Arg104= (c.310C>A) in the general population?

MRTFB p.Arg104= (c.310C>A) is absent from gnomAD v4.1 (gnomAD).

MRTFB p.Arg104=

c.310C>A · VCV3359240

Pathogenic No assertion criteria

Classification

Pathogenic

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

MRTFB-related disorder

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	<0.2	no splice effect predicted · four deltas, not one · how we know
Constraint at this position
Conservation	phyloP 7.7	GERP 2.9, phastCons 1
Overall
CADD	15.58	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: MRTFB
Protein: p.Arg104=
Coding: c.310C>A
MANE Select: NM_001308142
Type: single nucleotide variant
Location: chr16:14213578 (GRCh38)
Gene constraint: LOEUF 0.351 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 53.38

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

Disease context

MRTFB-related disorder

Similar variants

MRTFB p.Arg104Gly Pathogenic same residue
MRTFB p.Ala91Pro Pathogenic ★ same condition
MRTFB p.Leu160Pro Likely pathogenic ★ same condition
MRTFB p.Ala138Glu Uncertain significance ★ same condition
MRTFB p.Lys423Thr Uncertain significance ★ same condition
MRTFB p.His18Leu Uncertain significance same condition
MRTFB p.Thr228Ser Uncertain significance same condition
MRTFB p.Ser192del 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/mrtfb-p-arg104 (accessed [today's date]).

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