Is ARPC1B p.Ser310= (c.930C>T) pathogenic?

ARPC1B p.Ser310= (c.930C>T) is classified Likely benign in ARPC1B (ClinVar, Multiple submitters, 4 submitters; last evaluated 2025-10-25). Ultra-rare (popmax 0.0141%, nfe); Associated with platelet abnormalities with eosinophilia and immune-mediated inflammatory disease.

How common is ARPC1B p.Ser310= (c.930C>T) in the general population?

ARPC1B p.Ser310= (c.930C>T) is ultra-rare (popmax 0.0141%, nfe) (gnomAD).

ARPC1B p.Ser310=

Q: What condition is associated with ARPC1B p.Ser310= (c.930C>T)?

ARPC1B p.Ser310= (c.930C>T) is associated with platelet abnormalities with eosinophilia and immune-mediated inflammatory disease (ClinVar).

c.930C>T · rs747924128 · VCV1614206

Likely benign Multiple submitters

Classification

Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 4 submitters

gnomAD v4.1

Rare

ultra-rare (popmax 0.0141%, nfe)

Conditions

platelet abnormalities with eosinophilia and immune-mediated inflammatory disease

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 0.58	GERP 0.59, phastCons 1
Overall
CADD	11.14	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0141% European (non-Finnish) · 162/1,146,804 alleles

Filtering AF 0.0123% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0117%

Overall 0.011% 171/1,550,118 alleles · ultra-rare

Ancestry group	Frequency	1 in
European (non-Finnish)grpmax	0.0141%	7,079
Remaining individualsnot grpmax-eligible	0.00833%	12,012
Admixed American	0.00588%	17,003
African / African-American	0.00137%	73,062

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: ARPC1B
Protein: p.Ser310=
Coding: c.930C>T
MANE Select: NM_005720
dbSNP: rs747924128
Type: single nucleotide variant
Location: chr7:99392817 (GRCh38)
Gene constraint: LOEUF 0.876 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 92.81 · 4 PDB

Full ARPC1B gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

platelet abnormalities with eosinophilia and immune-mediated inflammatory disease — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

ARPC1B c.64+2T>A Pathogenic ★★ same condition
ARPC1B p.Ala261= Pathogenic ★★ same condition
ARPC1B p.Ala238Val Uncertain significance ★★ ⚠ same condition
ARPC1B p.Ala261Val Uncertain significance ★★ ⚠ same condition
ARPC1B p.Arg103His Uncertain significance ★★ ⚠ same condition
ARPC1B p.Cys162Gly Uncertain significance ★★ ⚠ same condition
ARPC1B p.Gly39Ser Uncertain significance ★★ ⚠ same condition
ARPC1B p.Met350Arg 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/arpc1b-p-ser310 (accessed [today's date]).

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