Is SGCA p.Asp283fs (c.846_847delinsT) pathogenic?

SGCA p.Asp283fs (c.846847delinsT) is classified Likely pathogenic in SGCA (ClinVar, No assertion criteria, 1 submitter; last evaluated 2016-04-04). No gnomAD frequency available for this variant; Associated with autosomal recessive limb-girdle muscular dystrophy type 2D.

What condition is associated with SGCA p.Asp283fs (c.846_847delinsT)?

SGCA p.Asp283fs (c.846_847delinsT) is associated with autosomal recessive limb-girdle muscular dystrophy type 2D (ClinVar).

How common is SGCA p.Asp283fs (c.846_847delinsT) in the general population?

SGCA p.Asp283fs (c.846_847delinsT) is no gnomAD frequency available for this variant (gnomAD).

SGCA p.Asp283fs

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.846_847delinsT · rs1057516729 · VCV370737

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 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 -6.2	GERP -3.8

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: SGCA
Protein: p.Asp283fs
Coding: c.846_847delinsT
MANE Select: NM_000023
dbSNP: rs1057516729
Type: Indel
Location: chr17:50170241 (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.Asp283His Uncertain significance ★★ ⚠ same residue
SGCA p.Asp283= Likely benign ★ same residue
SGCA p.Tyr78Ter Pathogenic ★★ same condition
SGCA p.Leu161_Gly162delinsPheTrp Uncertain significance ★★ same condition
SGCA p.Arg117delinsGlnLeuTer Likely pathogenic ★ same condition
SGCA c.748-11_748-10delinsAA Uncertain significance ★ same condition
SGCA c.585-5_585-4delinsTG Likely benign ★ same condition
SGCA c.37+6T>C 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-asp283fs (accessed [today's date]).

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