Is SGCA p.Pro262fs (c.779_782dup) pathogenic?

SGCA p.Pro262fs (c.779782dup) is classified Likely pathogenic in SGCA (ClinVar, Single submitter, 1 submitter; last evaluated 2024-07-29). Associated with autosomal recessive limb-girdle muscular dystrophy type 2D.

What condition is associated with SGCA p.Pro262fs (c.779_782dup)?

SGCA p.Pro262fs (c.779_782dup) is associated with autosomal recessive limb-girdle muscular dystrophy type 2D (ClinVar).

SGCA p.Pro262fs

Q: How is Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 inherited?

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

c.779_782dup · VCV4817878

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

autosomal recessive limb-girdle muscular dystrophy type 2D

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function
NMD	predicted	premature termination codon in exon 7 of 10
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 4.3	GERP -1.9, phastCons 1

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

Variant & gene context

Gene: SGCA
Protein: p.Pro262fs
Coding: c.779_782dup
MANE Select: NM_000023
Type: Duplication
Location: chr17:50170173 (GRCh38)
Gene constraint: LOEUF 1.273 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 80.15

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

Disease context

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

For Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 (Orphanet):

Inheritance: Autosomal recessive
Onset: Adolescent, Childhood
Prevalence: <1 / 1 000 000 (United Kingdom)

Similar variants

SGCA p.Pro262= Likely benign ★ same residue
SGCA p.Ala348fs Pathogenic/Likely pathogenic ★★ same condition
SGCA p.Arg77fs Pathogenic/Likely pathogenic ★★ same condition
SGCA p.Asn109fs Pathogenic/Likely pathogenic ★★ same condition
SGCA p.Asp126fs Pathogenic/Likely pathogenic ★★ same condition
SGCA p.Asp328fs Pathogenic ★★ same condition
SGCA p.Gln118fs Pathogenic ★★ same condition
SGCA p.Ile268fs Pathogenic/Likely pathogenic ★★ 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/sgca-p-pro262fs (accessed [today's date]).

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