Is ADNP p.Pro604fs (c.1807_1808dup) pathogenic?

ADNP p.Pro604fs (c.18071808dup) is classified Pathogenic in ADNP (ClinVar, Single submitter, 1 submitter; last evaluated 2021-06-17). Absent from gnomAD.

How common is ADNP p.Pro604fs (c.1807_1808dup) in the general population?

ADNP p.Pro604fs (c.1807_1808dup) is absent from gnomAD (gnomAD).

ADNP p.Pro604fs

c.1807_1808dup · rs2122749829 · VCV1184924

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

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	escapes	premature termination codon in the last exon (6 of 6) — the truncated protein is likely expressed. PVS1 input, not an applied code
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 1.8	GERP -1.6, 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: ADNP
Protein: p.Pro604fs
Coding: c.1807_1808dup
MANE Select: NM_001282531
dbSNP: rs2122749829
Type: Microsatellite
Location: chr20:50892905 (GRCh38)
Gene constraint: LOEUF 0.106 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 57.07

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

Similar variants

ADNP p.Pro604Ser Uncertain significance ★ ⚠ same residue
ADNP p.Asn832fs Pathogenic ★★ same type
ADNP p.Glu218_Ser219insTer Pathogenic ★★ same type
ADNP p.Val19fs Pathogenic ★★ same type
ADNP p.Asp735del Uncertain significance ★★ same type
ADNP p.Val963del Uncertain significance ★★ same type
ADNP p.Lys279del Benign/Likely benign ★★ same type
ADNP p.Arg646fs Pathogenic ★ same type

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/adnp-p-pro604fs (accessed [today's date]).

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