Is CD36 p.Glu397fs (c.1181_1185dup) pathogenic?

CD36 p.Glu397fs (c.11811185dup) is classified Conflicting classifications of pathogenicity in CD36 (ClinVar, Conflicting submitters, 6 submitters; last evaluated 2024-02-21). Rare (popmax 0.272%, mid); Associated with platelet-type bleeding disorder 10.

What condition is associated with CD36 p.Glu397fs (c.1181_1185dup)?

CD36 p.Glu397fs (c.1181_1185dup) is associated with platelet-type bleeding disorder 10 (ClinVar).

How common is CD36 p.Glu397fs (c.1181_1185dup) in the general population?

CD36 p.Glu397fs (c.1181_1185dup) is rare (popmax 0.272%, mid) (gnomAD).

CD36 p.Glu397fs

c.1181_1185dup · rs757570230 · VCV360768

Conflicting classifications of pathogenicity Conflicting submitters

Classification

Conflicting classifications of pathogenicity

ClinVar

Review

Conflicting submitters ★☆☆☆

ClinVar · 6 submitters

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

rare (popmax 0.272%, 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 12 of 15
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 4.9	GERP 0.83, phastCons 1
Overall
CADD	32.0	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 0.272% Middle Eastern · 16/5,880 alleles

Filtering AF 0.171% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.139%

Overall 0.00733% 118/1,610,522 alleles · rare

Ancestry group	Frequency	1 in
Middle Easterngrpmax	0.272%	367
Remaining individualsnot grpmax-eligible	0.0161%	6,230
Ashkenazi Jewishnot grpmax-eligible	0.0102%	9,844
European (non-Finnish)	0.00671%	14,908
South Asian	0.0066%	15,155
Admixed American	0.00334%	29,920
African / African-American	0.00267%	37,451

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.Glu397fs
Coding: c.1181_1185dup
MANE Select: NM_001001548
dbSNP: rs757570230
Type: Duplication
Location: chr7:80672822 (GRCh38)
Gene constraint: LOEUF 1.953 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 94.14 · 1 PDB

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.Gln262fs Pathogenic/Likely pathogenic ★★ same condition
CD36 p.Ile317fs Likely pathogenic ★★ same condition
CD36 p.Val411fs Likely pathogenic ★★ same condition
CD36 p.Ala225fs Pathogenic ★ same condition
CD36 p.Glu445fs Pathogenic ★ same condition
CD36 p.Leu440fs Likely pathogenic ★ same condition
CD36 p.Val128fs Likely pathogenic ★ same condition
CD36 c.1226_1254+4dup 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-glu397fs (accessed [today's date]).

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