Is SDHB p.Leu7Val (c.18_19delinsAG) pathogenic?

SDHB p.Leu7Val (c.1819delinsAG) is classified Conflicting classifications of pathogenicity in SDHB (ClinVar, Conflicting submitters, 2 submitters; last evaluated 2025-12-30). Absent from gnomAD; Associated with pheochromocytoma.

What condition is associated with SDHB p.Leu7Val (c.18_19delinsAG)?

SDHB p.Leu7Val (c.18_19delinsAG) is associated with pheochromocytoma, pheochromocytoma/paraganglioma syndrome 4, gastrointestinal stromal tumor (ClinVar).

How common is SDHB p.Leu7Val (c.18_19delinsAG) in the general population?

SDHB p.Leu7Val (c.18_19delinsAG) is absent from gnomAD (gnomAD).

SDHB p.Leu7Val

c.18_19delinsAG · rs2078164049 · VCV1401025

Conflicting classifications of pathogenicity Conflicting submitters

Classification

Conflicting classifications of pathogenicity

ClinVar

Review

Conflicting submitters ★☆☆☆

ClinVar · 2 submitters

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

pheochromocytoma

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 0.66	GERP 0.41, phastCons 0.24
Regional constraint	o/e 0.98	unconstrained · MANE · 35 kb · p 0.67 · regional, not allelic

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: SDHB
Protein: p.Leu7Val
Coding: c.18_19delinsAG
MANE Select: NM_003000
dbSNP: rs2078164049
Type: Indel
Location: chr1:17054001 (GRCh38)
Gene constraint: LOEUF 0.741 · pLI 0.03 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 92.14 · 6 PDB

Full SDHB 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 4 gastrointestinal stromal tumor hereditary neoplastic syndrome

Similar variants

SDHB p.Leu7Phe Uncertain significance ★★ same residue
SDHB p.Leu7fs Pathogenic ★ same residue
SDHB p.Leu7His Uncertain significance ★★ ⚠ same residue
SDHB p.Leu7Pro Uncertain significance ★★ ⚠ same residue
SDHB p.Leu7= Benign/Likely benign ★★ same residue
SDHB p.Leu7_Thr16del Uncertain significance ★ same residue
SDHB p.Asn104fs Pathogenic ★★ same condition
SDHB p.Lys126Ter 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/sdhb-p-leu7val (accessed [today's date]).

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