Is CD36 p.Val263fs (c.787_808del) pathogenic?

CD36 p.Val263fs (c.787808del) is classified Conflicting classifications of pathogenicity in CD36 (ClinVar, Conflicting submitters, 7 submitters; last evaluated 2025-12-01). Ultra-rare (popmax 0.0987%, mid); Associated with platelet-type bleeding disorder 10.

What condition is associated with CD36 p.Val263fs (c.787_808del)?

CD36 p.Val263fs (c.787_808del) is associated with platelet-type bleeding disorder 10 (ClinVar).

How common is CD36 p.Val263fs (c.787_808del) in the general population?

CD36 p.Val263fs (c.787_808del) is ultra-rare (popmax 0.0987%, mid) (gnomAD).

CD36 p.Val263fs

c.787_808del · rs754365623 · VCV873470

Conflicting classifications of pathogenicity Conflicting submitters

Classification

Conflicting classifications of pathogenicity

ClinVar

Review

Conflicting submitters ★☆☆☆

ClinVar · 7 submitters

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

ultra-rare (popmax 0.0987%, mid)

Conditions

platelet-type bleeding disorder 10

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function
NMD	predicted	premature termination codon in exon 9 of 15
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP -0.5	GERP -0.57
Overall
CADD	35.0	PHRED · no single calibrated threshold — expert panels disagree

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0987% Middle Eastern · 6/6,082 alleles

Filtering AF 0.0429% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0293%

Overall 0.0137% 221/1,612,236 alleles · ultra-rare

Ancestry group	Frequency	1 in
Middle Easterngrpmax	0.0987%	1,014
Admixed American	0.035%	2,857
European (non-Finnish)	0.0159%	6,302
African / African-American	0.00668%	14,977
South Asian	0.0022%	45,530

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.Val263fs
Coding: c.787_808del
MANE Select: NM_001001548
dbSNP: rs754365623
Type: Deletion
Location: chr7:80669990 (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 263: 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.Ile399fs Pathogenic/Likely pathogenic ★★ same condition
CD36 p.Ile410_Ile413del Pathogenic/Likely pathogenic ★★ same condition
CD36 p.Lys213fs Pathogenic/Likely pathogenic ★★ same condition
CD36 p.Lys223fs Pathogenic/Likely pathogenic ★★ same condition
CD36 c.818+1_818+9del Likely pathogenic ★ same condition
CD36 c.(?_-183 Pathogenic ★ same condition
CD36 p.Gln171fs Likely pathogenic ★ same condition
CD36 p.Lys36fs 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/cd36-p-val263fs (accessed [today's date]).

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