Is RPL35 p.Arg70= (c.210G>A) pathogenic?

RPL35 p.Arg70= (c.210G>A) is classified Likely benign in RPL35 (ClinVar, Single submitter, 1 submitter; last evaluated 2025-06-08). Absent from gnomAD v4.1.

How common is RPL35 p.Arg70= (c.210G>A) in the general population?

RPL35 p.Arg70= (c.210G>A) is absent from gnomAD v4.1 (gnomAD).

RPL35 p.Arg70=

c.210G>A · VCV3698506

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
REVEL	0.201	benign-leaning
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 0.82	GERP -1.3, phastCons 1
Overall
CADD	13.19	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: RPL35
Protein: p.Arg70=
Coding: c.210G>A
MANE Select: NM_007209
Type: single nucleotide variant
Location: chr9:124860195 (GRCh38)
Gene constraint: LOEUF 0.391 · pLI 0.99 (gnomAD)
Structure: AlphaFold pLDDT 94.73 · 188 PDB
Residue 70: an α-helix

Full RPL35 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

RPL35 p.Ala120Thr Uncertain significance ★★ ⚠ same type
RPL35 p.Arg109Gln Uncertain significance ★★ ⚠ same type
RPL35 p.Arg109Leu Uncertain significance ★★ ⚠ same type
RPL35 p.Arg112Trp Uncertain significance ★★ ⚠ same type
RPL35 p.Arg117Gln Uncertain significance ★★ ⚠ same type
RPL35 p.Arg94Trp Uncertain significance ★★ ⚠ same type
RPL35 p.His98Gln Uncertain significance ★★ ⚠ same type
RPL35 p.Ile47Met 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/rpl35-p-arg70 (accessed [today's date]).

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