Is ISCU p.Arg8= (c.24T>C) pathogenic?

ISCU p.Arg8= (c.24T>C) is classified Likely benign in ISCU (ClinVar, Single submitter, 1 submitter; last evaluated 2025-08-21). No allele count reported in gnomAD v4.1 (AN 1,481,872).

How common is ISCU p.Arg8= (c.24T>C) in the general population?

ISCU p.Arg8= (c.24T>C) is no allele count reported in gnomAD v4.1 (AN 1,481,872) (gnomAD).

ISCU p.Arg8=

c.24T>C · VCV4697099

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,481,872)

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 -1.5	GERP -5.4
Overall
CADD	6.523	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,481,872). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: ISCU
Protein: p.Arg8=
Coding: c.24T>C
MANE Select: NM_213595
Type: single nucleotide variant
Location: chr12:108562646 (GRCh38)
Gene constraint: LOEUF 1.542 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 85.17 · 18 PDB

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

Similar variants

ISCU p.Arg8Cys Uncertain significance ★★ ⚠ same residue
ISCU p.Arg8Gly Uncertain significance ★ ⚠ same residue
ISCU p.Arg8Ser Uncertain significance ★ ⚠ same residue
ISCU c.418+382G>C Pathogenic ★★ same type
ISCU p.Ala105Gly Uncertain significance ★★ ⚠ same type
ISCU p.Ala13Val Uncertain significance ★★ ⚠ same type
ISCU p.Ala149Thr Uncertain significance ★★ ⚠ same type
ISCU p.Ala15Thr 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/iscu-p-arg8 (accessed [today's date]).

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