Is CD36 p.Leu178= (c.534G>C) pathogenic?

CD36 p.Leu178= (c.534G>C) is classified Likely benign in CD36 (ClinVar, No assertion criteria, 1 submitter; last evaluated 2021-12-28). Very rare (popmax 0.00134%, afr); Associated with CD36-related disorder.

What condition is associated with CD36 p.Leu178= (c.534G>C)?

CD36 p.Leu178= (c.534G>C) is associated with CD36-related disorder (ClinVar).

How common is CD36 p.Leu178= (c.534G>C) in the general population?

CD36 p.Leu178= (c.534G>C) is very rare (popmax 0.00134%, afr) (gnomAD).

CD36 p.Leu178=

c.534G>C · rs966002749 · VCV3061735

Likely benign No assertion criteria

Classification

Likely benign

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 0.00134%, afr)

Conditions

CD36-related disorder

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 -3.2	GERP -3.3
Overall
CADD	0.554	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00134% African / African-American · 1/74,892 alleles

Overall 0.000657% 1/152,104 alleles · very rare

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: CD36
Protein: p.Leu178=
Coding: c.534G>C
MANE Select: NM_001001548
dbSNP: rs966002749
Type: single nucleotide variant
Location: chr7:80663094 (GRCh38)
Gene constraint: LOEUF 1.953 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 94.14 · 1 PDB
Residue 178: an α-helix

Full CD36 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

CD36-related disorder

Similar variants

CD36 p.Arg292Ile Uncertain significance ★★ ⚠ same condition
CD36 c.1255-1G>C Likely pathogenic ★ same condition
CD36 p.Cys313Ter Likely pathogenic ★ same condition
CD36 c.429+2T>C Conflicting classifications of pathogenicity ★ same condition
CD36 c.609+1G>A Conflicting classifications of pathogenicity ★ same condition
CD36 p.Arg386Trp Conflicting classifications of pathogenicity ★ ⚠ same condition
CD36 p.Leu360Ter Conflicting classifications of pathogenicity ★ same condition
CD36 c.1126-7T>G 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/cd36-p-leu178 (accessed [today's date]).

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