Is COQ4 p.Phe200= (c.600C>T) pathogenic?

COQ4 p.Phe200= (c.600C>T) is classified Likely benign in COQ4 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-07-13). Absent from gnomAD v4.1; Associated with neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome.

How common is COQ4 p.Phe200= (c.600C>T) in the general population?

COQ4 p.Phe200= (c.600C>T) is absent from gnomAD v4.1 (gnomAD).

COQ4 p.Phe200=

Q: What condition is associated with COQ4 p.Phe200= (c.600C>T)?

COQ4 p.Phe200= (c.600C>T) is associated with neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome (ClinVar).

Q: How is Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome inherited?

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

c.600C>T · rs781409069 · VCV2778552

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 0.88	GERP 1.4, phastCons 1
Overall
CADD	6.832	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: COQ4
Protein: p.Phe200=
Coding: c.600C>T
MANE Select: NM_016035
dbSNP: rs781409069
Type: single nucleotide variant
Location: chr9:128332917 (GRCh38)
Gene constraint: LOEUF 1.645 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 88.56
Residue 200: a UniProt-annotated variant site (in coq10d7; likely pathogenic)

Full COQ4 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome (Orphanet):

Inheritance: Autosomal recessive
Onset: Antenatal, Infancy, Neonatal

Similar variants

COQ4 c.300-2A>G Likely pathogenic ★★ same condition
COQ4 c.402+1G>A Pathogenic/Likely pathogenic ★★ same condition
COQ4 c.402+1G>C Pathogenic/Likely pathogenic ★★ same condition
COQ4 p.Ala71Thr Likely pathogenic ★★ same condition
COQ4 p.Arg141Ter Pathogenic/Likely pathogenic ★★ same condition
COQ4 p.Arg205Ter Pathogenic/Likely pathogenic ★★ same condition
COQ4 p.Arg240Cys Pathogenic/Likely pathogenic ★★ ⚠ same condition
COQ4 p.Asp68His 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/coq4-p-phe200 (accessed [today's date]).

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