Is COQ8A p.Val600= (c.1800C>T) pathogenic?

COQ8A p.Val600= (c.1800C>T) is classified Conflicting classifications of pathogenicity in COQ8A (ClinVar, Conflicting submitters, 4 submitters; last evaluated 2026-01-22). Ultra-rare (popmax 0.0131%, nfe); Associated with autosomal recessive ataxia due to ubiquinone deficiency.

What condition is associated with COQ8A p.Val600= (c.1800C>T)?

COQ8A p.Val600= (c.1800C>T) is associated with autosomal recessive ataxia due to ubiquinone deficiency (ClinVar).

How common is COQ8A p.Val600= (c.1800C>T) in the general population?

COQ8A p.Val600= (c.1800C>T) is ultra-rare (popmax 0.0131%, nfe) (gnomAD).

COQ8A p.Val600=

Q: How is Autosomal recessive ataxia due to ubiquinone deficiency inherited?

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

c.1800C>T · rs74589348 · VCV296028

Conflicting classifications of pathogenicity Conflicting submitters

Classification

Conflicting classifications of pathogenicity

ClinVar

Review

Conflicting submitters ★☆☆☆

ClinVar · 4 submitters

gnomAD v4.1

Rare

ultra-rare (popmax 0.0131%, nfe)

Conditions

autosomal recessive ataxia due to ubiquinone deficiency

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	<0.2	no splice effect predicted · four deltas, not one · how we know
Constraint at this position
Conservation	phyloP 0.015	GERP -2.7, phastCons 0.82
Overall
CADD	5.687	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0131% European (non-Finnish) · 155/1,179,974 alleles

Filtering AF 0.0114% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0107%

Overall 0.00985% 159/1,613,720 alleles · ultra-rare exomes 143/1,461,852 · genomes 16/151,868 · joint denominator

Ancestry group	Frequency	1 in
European (non-Finnish)grpmax	0.0131%	7,613
Remaining individualsnot grpmax-eligible	0.0048%	20,821
African / African-American	0.00134%	74,834

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: COQ8A
Protein: p.Val600=
Coding: c.1800C>T
MANE Select: NM_020247
dbSNP: rs74589348
Type: single nucleotide variant
Location: chr1:226986593 (GRCh38)
Gene constraint: LOEUF 0.999 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 70.65 · 4 PDB
Residue 600: a β-strand

Full COQ8A gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

autosomal recessive ataxia due to ubiquinone deficiency — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Autosomal recessive ataxia due to ubiquinone deficiency (Orphanet):

Inheritance: Autosomal recessive
Onset: Childhood

Similar variants

COQ8A p.Val600Ile Uncertain significance ★ ⚠ same residue
COQ8A c.588+1G>C Likely pathogenic ★★ same condition
COQ8A c.589-3C>G Pathogenic ★★ same condition
COQ8A p.Ala304Val Pathogenic/Likely pathogenic ★★ same condition
COQ8A p.Ala338Val Likely pathogenic ★★ same condition
COQ8A p.Ala339Thr Pathogenic/Likely pathogenic ★★ same condition
COQ8A p.Arg160Ter Pathogenic/Likely pathogenic ★★ same condition
COQ8A p.Arg213Gln 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/coq8a-p-val600 (accessed [today's date]).

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