RERE p.Pro788=

Q: Is RERE p.Pro788= (c.2364A>G) pathogenic?

RERE p.Pro788= (c.2364A>G) is classified Benign in RERE (ClinVar, Multiple submitters, 3 submitters; last evaluated 2024-11-26). Common (popmax 89.1%, eas) — too common for a highly-penetrant pathogenic allele; Associated with neurodevelopmental disorder with or without anomalies of the brain, eye, or heart.

Q: What condition is associated with RERE p.Pro788= (c.2364A>G)?

RERE p.Pro788= (c.2364A>G) is associated with neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (ClinVar).

Q: How common is RERE p.Pro788= (c.2364A>G) in the general population?

RERE p.Pro788= (c.2364A>G) is common (popmax 89.1%, eas) — too common for a highly-penetrant pathogenic allele (gnomAD).

c.2364A>G · rs13596 · VCV1327947

Benign Multiple submitters

Classification

Benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 3 submitters

gnomAD v4.1

Common

common (popmax 89.1%, eas) — too common for a highly-penetrant pathogenic allele

Conditions

neurodevelopmental disorder with or without anomalies of the brain, eye, or heart

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 -11	GERP -3.8
Overall
CADD	0.017	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 89.1% East Asian · 35,577/39,932 alleles

Filtering AF 88.3% ClinGen BA1/BS1 input FAF95, joint · FAF99 88%

Overall 67.6% 976,081/1,442,944 alleles · common exomes 865,928/1,291,184 · genomes 110,153/151,760 · joint denominator

Ancestry group	Frequency	1 in
East Asiangrpmax	89.1%	1
African / African-American	81.2%	1
Ashkenazi Jewishnot grpmax-eligible	80.8%	1
Admixed American	77.4%	1
Middle Eastern	77.2%	1
South Asian	74.4%	1
Remaining individualsnot grpmax-eligible	70.3%	1
European (non-Finnish)	65.1%	2
Finnishnot grpmax-eligible	62.2%	2
Amishnot grpmax-eligible	56.8%	2

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: RERE
Protein: p.Pro788=
Coding: c.2364A>G
MANE Select: NM_001042681
dbSNP: rs13596
Type: single nucleotide variant
Location: chr1:8361143 (GRCh38)
Gene constraint: LOEUF 0.459 · pLI 1.00 · ClinGen HI 1/3 (gnomAD)
Structure: AlphaFold pLDDT 54.51 · 1 PDB
Residue 788: the 'disordered' region

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

Disease context

neurodevelopmental disorder with or without anomalies of the brain, eye, or heart — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

RERE p.Pro788Leu Uncertain significance ★ ⚠ same residue
RERE p.His1429Arg Likely pathogenic ★★ same condition
RERE p.His1431Gln Pathogenic/Likely pathogenic ★★ ⚠ same condition
RERE p.His1433Pro Likely pathogenic ★★ ⚠ same condition
RERE p.His1435Arg Pathogenic/Likely pathogenic ★★ same condition
RERE p.His1435Leu Likely pathogenic ★★ same condition
RERE p.Pro1049Leu Pathogenic/Likely pathogenic ★★ ⚠ same condition
RERE p.Pro1424Leu Pathogenic/Likely pathogenic ★★ ⚠ 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/rere-p-pro788 (accessed [today's date]).

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