Is PRPH2 p.Arg310Glu (c.928_929delinsGA) pathogenic?

PRPH2 p.Arg310Glu (c.928929delinsGA) is classified Uncertain significance in PRPH2 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-12-26). No gnomAD frequency available for this variant; Associated with PRPH2-related disorder.

What condition is associated with PRPH2 p.Arg310Glu (c.928_929delinsGA)?

PRPH2 p.Arg310Glu (c.928_929delinsGA) is associated with PRPH2-related disorder (ClinVar).

How common is PRPH2 p.Arg310Glu (c.928_929delinsGA) in the general population?

PRPH2 p.Arg310Glu (c.928_929delinsGA) is no gnomAD frequency available for this variant (gnomAD).

PRPH2 p.Arg310Glu

c.928_929delinsGA · rs2548298330 · VCV2807219

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

PRPH2-related disorder

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 2.3	GERP 0.35, phastCons 1
Regional constraint	o/e 0.98	unconstrained · MANE · 24 kb · p 0.64 · regional, not allelic

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. 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: PRPH2
Protein: p.Arg310Glu
Coding: c.928_929delinsGA
MANE Select: NM_000322
dbSNP: rs2548298330
Type: Indel
Location: chr6:42698407 (GRCh38)
Gene constraint: LOEUF 0.773 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 87.56 · 1 PDB
Residue 310: a UniProt-annotated variant site (in)

Full PRPH2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

PRPH2-related disorder — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

PRPH2 p.Arg310Lys Benign ★★ same residue
PRPH2 p.Arg310fs Likely pathogenic ★ same residue
PRPH2 p.Arg310del Uncertain significance ★ same residue
PRPH2 p.Lys154fs Pathogenic ★★ same condition
PRPH2 p.Ala89fs Pathogenic ★ same condition
PRPH2 p.Leu126_Glu127delinsTer Likely pathogenic ★ same condition
PRPH2 p.Met67_Gly68delinsArgHisArg Pathogenic ★ same condition
PRPH2 p.Tyr257_Tyr258delinsTer 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/prph2-p-arg310glu (accessed [today's date]).

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