Is RELN p.Asp2848= (c.8544T>C) pathogenic?

RELN p.Asp2848= (c.8544T>C) is classified Likely benign in RELN (ClinVar, Single submitter, 1 submitter; last evaluated 2020-01-27). Absent from gnomAD v4.1; Associated with Norman-Roberts syndrome.

What condition is associated with RELN p.Asp2848= (c.8544T>C)?

RELN p.Asp2848= (c.8544T>C) is associated with Norman-Roberts syndrome, familial temporal lobe epilepsy 7 (ClinVar).

How common is RELN p.Asp2848= (c.8544T>C) in the general population?

RELN p.Asp2848= (c.8544T>C) is absent from gnomAD v4.1 (gnomAD).

RELN p.Asp2848=

c.8544T>C · rs1829003681 · VCV1159624

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

Norman-Roberts syndrome

⚠ Built without this gene's context — gene constraint and dosage, protein structure, pathways, panels and related-variant links were not looked up for this page. why

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
Constraint at this position
Conservation	phyloP 2.6	GERP -2.2, phastCons 1
Overall
CADD	6.492	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: RELN
Protein: p.Asp2848=
Coding: c.8544T>C
MANE Select: NM_005045
dbSNP: rs1829003681
Type: single nucleotide variant
Location: chr7:103500868 (GRCh38)

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

Disease context

Norman-Roberts syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: familial temporal lobe epilepsy 7

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/reln-p-asp2848 (accessed [today's date]).

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