Is CD36 p.Phe293= (c.879T>C) pathogenic?

CD36 p.Phe293= (c.879T>C) is classified Conflicting classifications of pathogenicity in CD36 (ClinVar, Conflicting submitters, 3 submitters; last evaluated 2026-01-01). Low-frequency (popmax 4.08%, sas); Associated with platelet-type bleeding disorder 10.

What condition is associated with CD36 p.Phe293= (c.879T>C)?

CD36 p.Phe293= (c.879T>C) is associated with platelet-type bleeding disorder 10 (ClinVar).

How common is CD36 p.Phe293= (c.879T>C) in the general population?

CD36 p.Phe293= (c.879T>C) is low-frequency (popmax 4.08%, sas) (gnomAD).

CD36 p.Phe293=

c.879T>C · rs188717259 · VCV908993

Conflicting classifications of pathogenicity Conflicting submitters

Classification

Conflicting classifications of pathogenicity

ClinVar

Review

Conflicting submitters ★☆☆☆

ClinVar · 3 submitters

gnomAD v4.1

Rare

low-frequency (popmax 4.08%, sas)

Conditions

platelet-type bleeding disorder 10

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 -0.52	GERP -1.8
Overall
CADD	8.607	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 4.08% South Asian · 3,719/91,056 alleles

Filtering AF 3.97% ClinGen BA1/BS1 input FAF95, joint · FAF99 3.93%

Overall 0.306% 4,932/1,613,184 alleles · low-frequency

Ancestry group	Frequency	1 in
South Asiangrpmax	4.08%	24
Middle Eastern	0.776%	129
Remaining individualsnot grpmax-eligible	0.437%	229
East Asian	0.355%	282
Ashkenazi Jewishnot grpmax-eligible	0.247%	405
Finnishnot grpmax-eligible	0.0672%	1,489
European (non-Finnish)	0.0495%	2,019
Admixed American	0.0417%	2,401
African / African-American	0.012%	8,338

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.Phe293=
Coding: c.879T>C
MANE Select: NM_001001548
dbSNP: rs188717259
Type: single nucleotide variant
Location: chr7:80671037 (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 293: a disulfide bond; a β-strand

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

Disease context

platelet-type bleeding disorder 10 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

CD36 p.Phe293Cys Uncertain significance ★ ⚠ same residue
CD36 c.1254+1G>A Likely pathogenic ★★ same condition
CD36 c.430-2A>G Likely pathogenic ★★ same condition
CD36 p.Cys243Ter Pathogenic ★★ same condition
CD36 p.Leu381Ter Pathogenic/Likely pathogenic ★★ same condition
CD36 p.Tyr62Ter Likely pathogenic ★★ same condition
CD36 c.-27C>T Uncertain significance ★★ same condition
CD36 p.Ala427Ser 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-phe293 (accessed [today's date]).

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