Is ADAM22 p.Ser799fs (c.2396del) pathogenic?

ADAM22 p.Ser799fs (c.2396del) is classified Pathogenic in ADAM22 (ClinVar, No assertion criteria, 1 submitter; last evaluated 2021-02-22). Absent from gnomAD; Associated with developmental and epileptic encephalopathy, 61.

What condition is associated with ADAM22 p.Ser799fs (c.2396del)?

ADAM22 p.Ser799fs (c.2396del) is associated with developmental and epileptic encephalopathy, 61 (ClinVar).

How common is ADAM22 p.Ser799fs (c.2396del) in the general population?

ADAM22 p.Ser799fs (c.2396del) is absent from gnomAD (gnomAD).

ADAM22 p.Ser799fs

c.2396del · rs1554519462 · VCV518458

Pathogenic No assertion criteria

Classification

Pathogenic

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

developmental and epileptic encephalopathy, 61

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 27 of 32
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 11	GERP 5.5, phastCons 1

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

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: ADAM22
Protein: p.Ser799fs
Coding: c.2396del
MANE Select: NM_001324418
dbSNP: rs1554519462
Type: Deletion
Location: chr7:88179030 (GRCh38)
Gene constraint: LOEUF 0.518 · pLI 0.55 (gnomAD)
Structure: AlphaFold pLDDT 73.17 · 10 PDB
Residue 799: the 'disordered' region

Full ADAM22 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

developmental and epileptic encephalopathy, 61 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

ADAM22 c.2283-2del Likely pathogenic ★ same condition
ADAM22 p.Ser799Gly Uncertain significance ★ ⚠ same residue
ADAM22 c.1393-3T>C Benign ★★ same condition
ADAM22 c.2596+35T>C Benign ★★ same condition
ADAM22 p.Pro81Arg Benign ★★ same condition
ADAM22 p.Val45Met Benign/Likely benign ★★ same condition
ADAM22 c.1617+1G>A Pathogenic ★ same condition
ADAM22 p.Arg954Ter 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/adam22-p-ser799fs (accessed [today's date]).

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