Is RPL7 p.Arg70= (c.208C>A) pathogenic?

RPL7 p.Arg70= (c.208C>A) is classified Likely benign in RPL7 (ClinVar, Single submitter, 1 submitter; last evaluated 2025-01-01). Very rare (popmax 0.000509%, nfe).

How common is RPL7 p.Arg70= (c.208C>A) in the general population?

RPL7 p.Arg70= (c.208C>A) is very rare (popmax 0.000509%, nfe) (gnomAD).

RPL7 p.Arg70=

c.208C>A · VCV3771705

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 0.000509%, nfe)

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 5.7	GERP 1.7, phastCons 1
Overall
CADD	13.86	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.000509% European (non-Finnish) · 6/1,178,420 alleles

Filtering AF 0.000183% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.00012%

Overall 0.000373% 6/1,608,494 alleles · very rare exomes 6/1,456,548 · genomes 0/151,946 · joint denominator

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: RPL7
Protein: p.Arg70=
Coding: c.208C>A
MANE Select: NM_000971
Type: single nucleotide variant
Location: chr8:73292321 (GRCh38)
Gene constraint: LOEUF 0.131 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 94.06 · 183 PDB
Residue 70: an α-helix

Full RPL7 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

RPL7 p.Arg70Leu Uncertain significance ★ ⚠ same residue
RPL7 p.Arg177Gln Uncertain significance ★ ⚠ same type
RPL7 p.Arg200His Uncertain significance ★ ⚠ same type
RPL7 p.Arg23Thr Uncertain significance ★ ⚠ same type
RPL7 p.Arg46Lys Uncertain significance ★ ⚠ same type
RPL7 p.Arg47Gly Uncertain significance ★ ⚠ same type
RPL7 p.Asn119Ser Uncertain significance ★ ⚠ same type
RPL7 p.Asn146Thr 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/rpl7-p-arg70 (accessed [today's date]).

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