Is FKRP p.Phe392fs (c.1173_1181delinsT) pathogenic?

FKRP p.Phe392fs (c.11731181delinsT) is classified Pathogenic in FKRP (ClinVar, Single submitter, 1 submitter; last evaluated 2025-03-31). Associated with myopathy caused by variation in FKRP.

What condition is associated with FKRP p.Phe392fs (c.1173_1181delinsT)?

FKRP p.Phe392fs (c.1173_1181delinsT) is associated with myopathy caused by variation in FKRP (ClinVar).

FKRP p.Phe392fs

c.1173_1181delinsT · VCV4081682

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

myopathy caused by variation in FKRP

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function
NMD	escapes	premature termination codon in the last exon (4 of 4) — the truncated protein is likely expressed. PVS1 input, not an applied code
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 1	GERP 1.3, phastCons 1

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Variant & gene context

Gene: FKRP
Protein: p.Phe392fs
Coding: c.1173_1181delinsT
MANE Select: NM_024301
Type: Indel
Location: chr19:46756623 (GRCh38)
Gene constraint: LOEUF 1.543 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 94.08 · 8 PDB

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

Disease context

myopathy caused by variation in FKRP — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

FKRP p.Phe392= Likely benign ★★ same residue
FKRP p.Phe392Ile Uncertain significance ★ ⚠ same residue
FKRP p.Ala321Glu Pathogenic/Likely pathogenic ★★ ⚠ same condition
FKRP p.Leu276Ile Pathogenic/Likely pathogenic ★★ ⚠ same condition
FKRP p.Ala321Thr Conflicting classifications of pathogenicity ★ ⚠ same condition
FKRP p.Arg54Trp Pathogenic ★★ same type
FKRP p.Ala336fs Likely pathogenic ★ same type
FKRP p.Asp74fs 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/fkrp-p-phe392fs (accessed [today's date]).

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