Is CD36 p.Ile413fs (c.1236del) pathogenic?

CD36 p.Ile413fs (c.1236del) is classified Likely pathogenic in CD36 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-06-06). Very rare (popmax 0.00456%, eas); Associated with CD36-related disorder.

What condition is associated with CD36 p.Ile413fs (c.1236del)?

CD36 p.Ile413fs (c.1236del) is associated with CD36-related disorder (ClinVar).

How common is CD36 p.Ile413fs (c.1236del) in the general population?

CD36 p.Ile413fs (c.1236del) is very rare (popmax 0.00456%, eas) (gnomAD).

CD36 p.Ile413fs

c.1236del · rs1451278617 · VCV2636233

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

very rare (popmax 0.00456%, eas)

Conditions

CD36-related disorder

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 13 of 15
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 5.9	GERP 1.2, phastCons 1

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

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00456% East Asian · 2/43,854 alleles

Filtering AF 0.000756% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.000283%

Overall 0.000141% 2/1,419,538 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.Ile413fs
Coding: c.1236del
MANE Select: NM_001001548
dbSNP: rs1451278617
Type: Deletion
Location: chr7:80673391 (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 413: a UniProt-annotated variant site (in pg4d; type i); a β-strand

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

Disease context

CD36-related disorder

Similar variants

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.1200-7_1208del Likely pathogenic ★ same condition
CD36 p.Asn6fs Pathogenic ★ same condition
CD36 p.Ser450_Val451del Uncertain significance ★ same condition
CD36 p.Ile413Leu Pathogenic ⚠ same residue
CD36 p.Thr111fs Pathogenic/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-ile413fs (accessed [today's date]).

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