Is PEX10 p.Asp18= (c.54C>T) pathogenic?

PEX10 p.Asp18= (c.54C>T) is classified Likely benign in PEX10 (ClinVar, Single submitter, 1 submitter; last evaluated 2021-07-23). Very rare (popmax 0.000365%, nfe); Associated with Peroxisome biogenesis disorder, complementation group 7.

What condition is associated with PEX10 p.Asp18= (c.54C>T)?

PEX10 p.Asp18= (c.54C>T) is associated with Peroxisome biogenesis disorder, complementation group 7 (ClinVar).

How common is PEX10 p.Asp18= (c.54C>T) in the general population?

PEX10 p.Asp18= (c.54C>T) is very rare (popmax 0.000365%, nfe) (gnomAD).

PEX10 p.Asp18=

c.54C>T · rs1570123615 · VCV1624903

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 0.000365%, nfe)

Conditions

Peroxisome biogenesis disorder, complementation group 7

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 2.8	GERP 0.79, phastCons 1
Overall
CADD	16.01	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.000365% European (non-Finnish) · 4/1,095,036 alleles

Filtering AF 8.6e-05% ClinGen BA1/BS1 input FAF95, joint · FAF99 5.8e-05%

Overall 0.00028% 4/1,428,638 alleles · very rare exomes 4/1,276,426 · genomes 0/152,212 · joint denominator

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: PEX10
Protein: p.Asp18=
Coding: c.54C>T
MANE Select: NM_002617
dbSNP: rs1570123615
Type: single nucleotide variant
Location: chr1:2412449 (GRCh38)
Gene constraint: LOEUF 1.234 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 82.81

Full PEX10 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Peroxisome biogenesis disorder, complementation group 7 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

PEX10 p.Asp18His Conflicting classifications of pathogenicity ★ ⚠ same residue
PEX10 p.Asp18Asn Conflicting classifications of pathogenicity ★ ⚠ same residue
PEX10 c.113-1G>A Likely pathogenic ★★ same condition
PEX10 c.776+1G>A Likely pathogenic ★★ same condition
PEX10 p.Arg125Ter Pathogenic/Likely pathogenic ★★ same condition
PEX10 p.Met1Ile Pathogenic/Likely pathogenic ★★ same condition
PEX10 c.776+5G>A Uncertain significance ★★ same condition
PEX10 p.Ala150Val Uncertain significance ★★ ⚠ 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/pex10-p-asp18 (accessed [today's date]).

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