Is FKRP p.Val63fs (c.170_186dup) pathogenic?

FKRP p.Val63fs (c.170186dup) is classified Likely pathogenic in FKRP (ClinVar, No assertion criteria, 1 submitter; last evaluated 2017-09-06). No gnomAD frequency available for this variant; Associated with autosomal recessive limb-girdle muscular dystrophy type 2I.

What condition is associated with FKRP p.Val63fs (c.170_186dup)?

FKRP p.Val63fs (c.170_186dup) is associated with autosomal recessive limb-girdle muscular dystrophy type 2I (ClinVar).

How common is FKRP p.Val63fs (c.170_186dup) in the general population?

FKRP p.Val63fs (c.170_186dup) is no gnomAD frequency available for this variant (gnomAD).

How is FKRP-related limb-girdle muscular dystrophy R9 inherited?

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

FKRP p.Val63fs

c.170_186dup · rs1555738149 · VCV553761

Likely pathogenic No assertion criteria

Classification

Likely pathogenic

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

autosomal recessive limb-girdle muscular dystrophy type 2I

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 6.1	GERP 1.4, phastCons 1

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

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: FKRP
Protein: p.Val63fs
Coding: c.170_186dup
MANE Select: NM_024301
dbSNP: rs1555738149
Type: Duplication
Location: chr19:46755617 (GRCh38)
Gene constraint: LOEUF 1.543 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 94.08 · 8 PDB
Residue 63: an α-helix

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

Disease context

autosomal recessive limb-girdle muscular dystrophy type 2I — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For FKRP-related limb-girdle muscular dystrophy R9 (Orphanet):

Inheritance: Autosomal recessive
Onset: Adolescent, Adult, Childhood
Prevalence: 1-9 / 100 000 (Europe)

Similar variants

FKRP p.Ala397fs Pathogenic ★★ same condition
FKRP p.Arg404fs Pathogenic/Likely pathogenic ★★ same condition
FKRP p.Cys191fs Pathogenic/Likely pathogenic ★★ same condition
FKRP p.Glu55fs Pathogenic/Likely pathogenic ★★ same condition
FKRP p.Phe56fs Pathogenic/Likely pathogenic ★★ same condition
FKRP p.Glu334_Arg339dup Uncertain significance ★★ same condition
FKRP p.Leu93_Pro94dup Uncertain significance ★★ same condition
FKRP p.Val63Met Uncertain significance ★★ ⚠ same residue

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-val63fs (accessed [today's date]).

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