Is ETFA p.Thr171fs (c.510_511del) pathogenic?

ETFA p.Thr171fs (c.510511del) is classified Likely pathogenic in ETFA (ClinVar, Single submitter, 1 submitter; last evaluated 2024-06-07). Associated with multiple acyl-CoA dehydrogenase deficiency.

What condition is associated with ETFA p.Thr171fs (c.510_511del)?

ETFA p.Thr171fs (c.510_511del) is associated with multiple acyl-CoA dehydrogenase deficiency (ClinVar).

How is Multiple acyl-CoA dehydrogenase deficiency inherited?

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

ETFA p.Thr171fs

c.510_511del · VCV3577723

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

multiple acyl-CoA dehydrogenase deficiency

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 6 of 12
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 12	GERP 1.9, phastCons 1

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

Variant & gene context

Gene: ETFA
Protein: p.Thr171fs
Coding: c.510_511del
MANE Select: NM_000126
Type: Deletion
Location: chr15:76286422 (GRCh38)
Gene constraint: LOEUF 1.166 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 94.00 · 4 PDB
Residue 171: the 'domain i' region; a UniProt-annotated variant site (decreased protein stability); an α-helix

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

Disease context

multiple acyl-CoA dehydrogenase deficiency — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Multiple acyl-CoA dehydrogenase deficiency (Orphanet):

Inheritance: Autosomal recessive
Onset: All ages
Prevalence: 1-9 / 1 000 000 (United States)

Similar variants

ETFA p.Thr171Ile Benign/Likely benign ★★ same residue
ETFA p.Thr171= Likely benign ★ same residue
ETFA c.658_664+3del Likely pathogenic ★★ same condition
ETFA p.Arg209fs Pathogenic/Likely pathogenic ★★ same condition
ETFA p.Gln100fs Pathogenic/Likely pathogenic ★★ same condition
ETFA p.Leu67_Cys68insTer Pathogenic/Likely pathogenic ★★ same condition
ETFA p.Lys59fs Pathogenic/Likely pathogenic ★★ same condition
ETFA c.452-11del Likely benign ★★ 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/etfa-p-thr171fs (accessed [today's date]).

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