Is CD36 p.Ser342= (c.1026A>G) pathogenic?

CD36 p.Ser342= (c.1026A>G) is classified Likely benign in CD36 (ClinVar, No assertion criteria, 1 submitter; last evaluated 2022-04-25). Absent from gnomAD v4.1; Associated with CD36-related disorder.

What condition is associated with CD36 p.Ser342= (c.1026A>G)?

CD36 p.Ser342= (c.1026A>G) is associated with CD36-related disorder (ClinVar).

How common is CD36 p.Ser342= (c.1026A>G) in the general population?

CD36 p.Ser342= (c.1026A>G) is absent from gnomAD v4.1 (gnomAD).

CD36 p.Ser342=

c.1026A>G · rs1797713557 · VCV3051761

Likely benign No assertion criteria

Classification

Likely benign

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

CD36-related disorder

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
REVEL	0.098	moderately benign-leaning
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -0.65	GERP -3.6
Overall
CADD	5.065	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: CD36
Protein: p.Ser342=
Coding: c.1026A>G
MANE Select: NM_001001548
dbSNP: rs1797713557
Type: single nucleotide variant
Location: chr7:80671941 (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 342: 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.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-ser342 (accessed [today's date]).

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