Is ETFDH p.Phe379fs (c.1136_1140del) pathogenic?

ETFDH p.Phe379fs (c.11361140del) is classified Pathogenic/Likely pathogenic in ETFDH (ClinVar, Multiple submitters, 2 submitters; last evaluated 2023-09-04). Absent from gnomAD; Associated with multiple acyl-CoA dehydrogenase deficiency.

What condition is associated with ETFDH p.Phe379fs (c.1136_1140del)?

ETFDH p.Phe379fs (c.1136_1140del) is associated with multiple acyl-CoA dehydrogenase deficiency (ClinVar).

How common is ETFDH p.Phe379fs (c.1136_1140del) in the general population?

ETFDH p.Phe379fs (c.1136_1140del) is absent from gnomAD (gnomAD).

How is Multiple acyl-CoA dehydrogenase deficiency inherited?

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

ETFDH p.Phe379fs

c.1136_1140del · rs2126309189 · VCV1070989

Pathogenic/Likely pathogenic Multiple submitters

Classification

Pathogenic/Likely pathogenic

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

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 10 of 13
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 8.1	GERP 0.88, 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: ETFDH
Protein: p.Phe379fs
Coding: c.1136_1140del
MANE Select: NM_004453
dbSNP: rs2126309189
Type: Deletion
Location: chr4:158703439 (GRCh38)
Gene constraint: LOEUF 1.126 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 93.60

Full ETFDH 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

ETFDH c.175+1del Pathogenic/Likely pathogenic ★★ same condition
ETFDH c.972+1del Pathogenic/Likely pathogenic ★★ same condition
ETFDH p.Ala18_Leu19insTer Pathogenic/Likely pathogenic ★★ same condition
ETFDH p.Asn582fs Pathogenic/Likely pathogenic ★★ same condition
ETFDH p.Asp541fs Pathogenic ★★ same condition
ETFDH p.Gln14fs Pathogenic/Likely pathogenic ★★ same condition
ETFDH p.Gln89fs Pathogenic ★★ same condition
ETFDH p.Glu133fs 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/etfdh-p-phe379fs (accessed [today's date]).

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