Is ERBIN p.Val120= (c.360G>A) pathogenic?

ERBIN p.Val120= (c.360G>A) is classified Conflicting classifications of pathogenicity in ERBIN (ClinVar, Conflicting submitters, 2 submitters; last evaluated 2025-12-03). Ultra-rare (popmax 0.0348%, afr); Associated with ERBIN-related disorder.

What condition is associated with ERBIN p.Val120= (c.360G>A)?

ERBIN p.Val120= (c.360G>A) is associated with ERBIN-related disorder (ClinVar).

How common is ERBIN p.Val120= (c.360G>A) in the general population?

ERBIN p.Val120= (c.360G>A) is ultra-rare (popmax 0.0348%, afr) (gnomAD).

ERBIN p.Val120=

c.360G>A · rs369427319 · VCV1472630

Conflicting classifications of pathogenicity Conflicting submitters

Classification

Conflicting classifications of pathogenicity

ClinVar

Review

Conflicting submitters ★☆☆☆

ClinVar · 2 submitters

gnomAD v4.1

Rare

ultra-rare (popmax 0.0348%, afr)

Conditions

ERBIN-related disorder

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 4.7	GERP 5.9, phastCons 1
Overall
CADD	11.45	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0348% African / African-American · 26/74,740 alleles

Filtering AF 0.0243% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0209%

Overall 0.00255% 41/1,606,376 alleles · ultra-rare

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.0348%	2,875
Admixed American	0.00505%	19,784
Remaining individualsnot grpmax-eligible	0.00161%	62,082
European (non-Finnish)	0.000936%	106,883

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: ERBIN
Protein: p.Val120=
Coding: c.360G>A
MANE Select: NM_001253697
dbSNP: rs369427319
Type: single nucleotide variant
Location: chr5:66012101 (GRCh38)
Gene constraint: LOEUF 0.526 · pLI 0.72 (gnomAD)
Structure: AlphaFold pLDDT 56.01 · 11 PDB

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

Disease context

ERBIN-related disorder

Similar variants

ERBIN p.Ala942Val Uncertain significance ★★ ⚠ same condition
ERBIN p.Asn1035Ser Uncertain significance ★★ ⚠ same condition
ERBIN p.His587Arg Uncertain significance ★★ ⚠ same condition
ERBIN p.Ile318Thr Uncertain significance ★★ ⚠ same condition
ERBIN p.Ile318Val Uncertain significance ★★ ⚠ same condition
ERBIN p.Met289Ile Uncertain significance ★★ ⚠ same condition
ERBIN p.Pro339Ala Uncertain significance ★★ ⚠ same condition
ERBIN p.Tyr920Cys Uncertain significance ★★ ⚠ same condition

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/erbin-p-val120 (accessed [today's date]).

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