Is RPL5 p.Val6= (c.18T>A) pathogenic?

RPL5 p.Val6= (c.18T>A) is classified Likely benign in RPL5 (ClinVar, Single submitter, 1 submitter; last evaluated 2025-06-29). Very rare (popmax 0.000678%, nfe); Associated with Diamond-Blackfan anemia.

What condition is associated with RPL5 p.Val6= (c.18T>A)?

RPL5 p.Val6= (c.18T>A) is associated with Diamond-Blackfan anemia (ClinVar).

How common is RPL5 p.Val6= (c.18T>A) in the general population?

RPL5 p.Val6= (c.18T>A) is very rare (popmax 0.000678%, nfe) (gnomAD).

How is Diamond-Blackfan anemia inherited?

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

RPL5 p.Val6=

c.18T>A · rs768965548 · VCV1111490

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 0.000678%, nfe)

Conditions

Diamond-Blackfan anemia

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not looked up on this page · why
Pangolin	Δ0.32	loss · gain 0.01 · independent
Constraint at this position
Conservation	phyloP 0.15	GERP -2.8, phastCons 0.99
Overall
CADD	9.51	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.000678% European (non-Finnish) · 8/1,179,096 alleles

Filtering AF 0.000292% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.000211%

Overall 0.000496% 8/1,612,972 alleles · very rare

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: RPL5
Protein: p.Val6=
Coding: c.18T>A
MANE Select: NM_000969
dbSNP: rs768965548
Type: single nucleotide variant
Location: chr1:92833403 (GRCh38)

Full RPL5 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Diamond-Blackfan anemia — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Diamond-Blackfan anemia (Orphanet):

Inheritance: Autosomal dominant
Onset: Childhood, Infancy, Neonatal
Prevalence: 1-9 / 1 000 000 (Europe)

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/rpl5-p-val6 (accessed [today's date]).

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