Is RPL17 p.Thr151fs (c.452del) pathogenic?

RPL17 p.Thr151fs (c.452del) is classified Likely pathogenic in RPL17 (ClinVar, Single submitter, 1 submitter; last evaluated 2024-04-26). No gnomAD frequency available for this variant; Associated with High forehead.

What condition is associated with RPL17 p.Thr151fs (c.452del)?

RPL17 p.Thr151fs (c.452del) is associated with High forehead, pancytopenia, macrocytic anemia (ClinVar).

How common is RPL17 p.Thr151fs (c.452del) in the general population?

RPL17 p.Thr151fs (c.452del) is no gnomAD frequency available for this variant (gnomAD).

RPL17 p.Thr151fs

c.452del · rs2511242132 · VCV3233357

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

High forehead

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 LoF-intolerant gene
NMD	predicted	premature termination codon in exon 6 of 7
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 0.004	GERP -2.2, phastCons 0.03

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: RPL17
Protein: p.Thr151fs
Coding: c.452del
MANE Select: NM_001035006
dbSNP: rs2511242132
Type: Deletion
Location: chr18:49489414 (GRCh38)
Gene constraint: LOEUF 0.184 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 91.85 · 184 PDB
Residue 151: a β-strand

Full RPL17 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

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

Also linked: pancytopenia macrocytic anemia fetal growth restriction autism attention deficit-hyperactivity disorder

Similar variants

RPL17 p.Thr151Met Uncertain significance ★ same residue
RPL23 c.227-7_227-3del Uncertain significance ★ 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/rpl17-p-thr151fs (accessed [today's date]).

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