Is RBBP8 p.Val72= (c.216C>A) pathogenic?

RBBP8 p.Val72= (c.216C>A) is classified Likely benign in RBBP8 (ClinVar, Single submitter, 1 submitter; last evaluated 2024-03-19). Absent from gnomAD v4.1.

How common is RBBP8 p.Val72= (c.216C>A) in the general population?

RBBP8 p.Val72= (c.216C>A) is absent from gnomAD v4.1 (gnomAD).

RBBP8 p.Val72=

c.216C>A · VCV3681020

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.
Splicing
SpliceAI	<0.2	no splice effect predicted · four deltas, not one · how we know
Constraint at this position
Conservation	phyloP -2.2	GERP -4
Overall
CADD	2.574	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: RBBP8
Protein: p.Val72=
Coding: c.216C>A
MANE Select: NM_002894
Type: single nucleotide variant
Location: chr18:22949681 (GRCh38)
Gene constraint: LOEUF 0.981 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 53.73 · 4 PDB
Residue 72: the 'required for interaction with lmo4, probably by stabilizing the interaction through rppb8 dimerization' region

Full RBBP8 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

RBBP8 p.Gln47Ter Likely pathogenic ★★ same type
RBBP8 c.2455-4T>G Uncertain significance ★★ same type
RBBP8 c.2596+3G>A Uncertain significance ★★ same type
RBBP8 p.Ala833Asp Uncertain significance ★★ ⚠ same type
RBBP8 p.Arg110Gln Uncertain significance ★★ ⚠ same type
RBBP8 p.Arg110Trp Uncertain significance ★★ ⚠ same type
RBBP8 p.Arg443Gln Uncertain significance ★★ ⚠ same type
RBBP8 p.Arg502Cys 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/rbbp8-p-val72 (accessed [today's date]).

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