Is SDHD p.Arg38fs (c.113_122del) pathogenic?

SDHD p.Arg38fs (c.113122del) is classified Likely pathogenic in SDHD (ClinVar, Single submitter, 1 submitter). Associated with pheochromocytoma.

What condition is associated with SDHD p.Arg38fs (c.113_122del)?

SDHD p.Arg38fs (c.113_122del) is associated with pheochromocytoma, pheochromocytoma/paraganglioma syndrome 1, Carney-Stratakis syndrome (ClinVar).

SDHD p.Arg38fs

c.113_122del · VCV3381964

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

pheochromocytoma

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function in a haploinsufficient gene (ClinGen)
NMD	predicted	premature termination codon in exon 2 of 4
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 9	GERP 2.1, phastCons 1

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

Variant & gene context

Gene: SDHD
Protein: p.Arg38fs
Coding: c.113_122del
MANE Select: NM_003002
Type: Deletion
Location: chr11:112087915 (GRCh38)
Gene constraint: LOEUF 0.581 · pLI 0.91 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 81.50 · 2 PDB

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

Disease context

pheochromocytoma — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: pheochromocytoma/paraganglioma syndrome 1 Carney-Stratakis syndrome mitochondrial complex 2 deficiency, nuclear type 3

Similar variants

SDHD p.Arg38Ter Pathogenic ★★ same residue
SDHD p.Arg38Pro Uncertain significance ★★ ⚠ same residue
SDHD p.Arg38= Benign/Likely benign ★★ same residue
SDHD p.Arg38Gln Conflicting classifications of pathogenicity ★ ⚠ same residue
SDHD p.Arg38Leu Uncertain significance ★ ⚠ same residue
SDHD p.Gln109fs Pathogenic ★★ same condition
SDHD p.Gly58fs Pathogenic ★★ same condition
SDHD p.Leu128fs 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/sdhd-p-arg38fs (accessed [today's date]).

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