Is ADPRS p.Val98fs (c.292del) pathogenic?

ADPRS p.Val98fs (c.292del) is classified Likely pathogenic in ADPRS (ClinVar, Single submitter, 2 submitters; last evaluated 2022-04-13). Absent from gnomAD; Associated with neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures.

How common is ADPRS p.Val98fs (c.292del) in the general population?

ADPRS p.Val98fs (c.292del) is absent from gnomAD (gnomAD).

ADPRS p.Val98fs

Q: What condition is associated with ADPRS p.Val98fs (c.292del)?

ADPRS p.Val98fs (c.292del) is associated with neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures (ClinVar).

Q: How is Childhood-onset stress-induced neurodegenerative ataxia-seizure syndrome inherited?

Typically Autosomal recessive (Orphanet). A genetic counselor can assess individual risk for a family.

c.292del · rs1557733367 · VCV599344

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 2 submitters

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures

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 2 of 6
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 11	GERP 0.69, 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: ADPRS
Protein: p.Val98fs
Coding: c.292del
MANE Select: NM_017825
dbSNP: rs1557733367
Type: Deletion
Location: chr1:36091323 (GRCh38)
Gene constraint: LOEUF 1.155 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 95.70 · 14 PDB
Residue 98: an α-helix

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

Disease context

neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Childhood-onset stress-induced neurodegenerative ataxia-seizure syndrome (Orphanet):

Inheritance: Autosomal recessive

Similar variants

ADPRS p.Ala139fs Pathogenic ★★ same condition
ADPRS p.Thr49fs Pathogenic ★ same condition
ADPRS p.Lys248_Ile249delinsAsn Conflicting classifications of pathogenicity ★ same condition
ADPRS p.Met332fs Uncertain significance ★ same condition
ADPRS p.Lys213fs Uncertain significance same condition
ADPRS p.Gln106Ter Pathogenic/Likely pathogenic ★★ same condition
ADPRS p.Ser177Leu Likely pathogenic ★★ same condition
ADPRS p.Thr79Pro Pathogenic/Likely 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/adprs-p-val98fs (accessed [today's date]).

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