Is MYOT p.Pro93= (c.279A>G) pathogenic?

MYOT p.Pro93= (c.279A>G) is classified Likely benign in MYOT (ClinVar, Single submitter, 1 submitter; last evaluated 2023-10-25). Absent from gnomAD v4.1; Associated with myofibrillar myopathy 3.

What condition is associated with MYOT p.Pro93= (c.279A>G)?

MYOT p.Pro93= (c.279A>G) is associated with myofibrillar myopathy 3 (ClinVar).

How common is MYOT p.Pro93= (c.279A>G) in the general population?

MYOT p.Pro93= (c.279A>G) is absent from gnomAD v4.1 (gnomAD).

How is Distal myotilinopathy inherited?

Typically Autosomal dominant (Orphanet). A genetic counselor can assess individual risk for a family.

MYOT p.Pro93=

c.279A>G · rs2531991571 · VCV2991665

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

myofibrillar myopathy 3

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 0.64	GERP -1.1, phastCons 0.95
Overall
CADD	7.786	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: MYOT
Protein: p.Pro93=
Coding: c.279A>G
MANE Select: NM_006790
dbSNP: rs2531991571
Type: single nucleotide variant
Location: chr5:137870930 (GRCh38)
Gene constraint: LOEUF 0.923 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 65.17 · 2 PDB
Residue 93: the 'disordered' region; the 'necessary for interaction with actn1' region

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

Disease context

myofibrillar myopathy 3 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Distal myotilinopathy (Orphanet):

Inheritance: Autosomal dominant
Onset: Adult, Elderly
Prevalence: 1-9 / 100 000 (Europe)

Similar variants

MYOT p.Ser55Phe Pathogenic/Likely pathogenic ★★ ⚠ same condition
MYOT p.Ser60Cys Pathogenic ★★ ⚠ same condition
MYOT p.Ser60Phe Pathogenic/Likely pathogenic ★★ same condition
MYOT c.531+4G>C Uncertain significance ★★ same condition
MYOT p.Ala131Glu Uncertain significance ★★ ⚠ same condition
MYOT p.Ala137Thr Uncertain significance ★★ ⚠ same condition
MYOT p.Ala218Val Uncertain significance ★★ ⚠ same condition
MYOT p.Arg178Cys 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/myot-p-pro93 (accessed [today's date]).

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