Is RDH12 p.Arg71= (c.211A>C) pathogenic?

RDH12 p.Arg71= (c.211A>C) is classified Likely benign in RDH12 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-12-23). Absent from gnomAD v4.1; Associated with Leber congenital amaurosis 13.

What condition is associated with RDH12 p.Arg71= (c.211A>C)?

RDH12 p.Arg71= (c.211A>C) is associated with Leber congenital amaurosis 13 (ClinVar).

How common is RDH12 p.Arg71= (c.211A>C) in the general population?

RDH12 p.Arg71= (c.211A>C) is absent from gnomAD v4.1 (gnomAD).

How is Leber congenital amaurosis inherited?

Typically Autosomal dominant, Autosomal recessive (Orphanet). A genetic counselor can assess individual risk for a family.

RDH12 p.Arg71=

c.211A>C · rs2503797859 · VCV2759023

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

Leber congenital amaurosis 13

⚠ 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 -0.1	GERP -3.1, phastCons 0.012
Overall
CADD	7.368	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: RDH12
Protein: p.Arg71=
Coding: c.211A>C
MANE Select: NM_152443
dbSNP: rs2503797859
Type: single nucleotide variant
Location: chr14:67725122 (GRCh38)

Full RDH12 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Leber congenital amaurosis 13 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Leber congenital amaurosis (Orphanet):

Inheritance: Autosomal dominant, Autosomal recessive
Onset: Infancy, Neonatal
Prevalence: 1-9 / 100 000 (Europe)

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/rdh12-p-arg71 (accessed [today's date]).

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