Is RHO p.Phe208= (c.624C>T) pathogenic?

RHO p.Phe208= (c.624C>T) is classified Likely benign in RHO (ClinVar, Multiple submitters, 3 submitters; last evaluated 2024-12-23). Ultra-rare (popmax 0.0693%, afr); Associated with retinitis pigmentosa.

What condition is associated with RHO p.Phe208= (c.624C>T)?

RHO p.Phe208= (c.624C>T) is associated with retinitis pigmentosa, congenital stationary night blindness autosomal dominant 1 (ClinVar).

How common is RHO p.Phe208= (c.624C>T) in the general population?

RHO p.Phe208= (c.624C>T) is ultra-rare (popmax 0.0693%, afr) (gnomAD).

How is Retinitis pigmentosa inherited?

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

RHO p.Phe208=

c.624C>T · rs113751838 · VCV343280

Likely benign Multiple submitters

Classification

Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 3 submitters

gnomAD v4.1

Rare

ultra-rare (popmax 0.0693%, afr)

Conditions

retinitis pigmentosa

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 -0.64	GERP -2.2, phastCons 0.009
Overall
CADD	11.75	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0693% African / African-American · 52/75,014 alleles

Filtering AF 0.0543% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0489%

Overall 0.00867% 140/1,613,986 alleles · ultra-rare exomes 117/1,461,788 · genomes 23/152,198 · joint denominator

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.0693%	1,443
Ashkenazi Jewishnot grpmax-eligible	0.0608%	1,645
Remaining individualsnot grpmax-eligible	0.048%	2,083
East Asian	0.00892%	11,214
European (non-Finnish)	0.00297%	33,714
Admixed American	0.00167%	60,020

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: RHO
Protein: p.Phe208=
Coding: c.624C>T
MANE Select: NM_000539
dbSNP: rs113751838
Type: single nucleotide variant
Location: chr3:129532344 (GRCh38)
Gene constraint: LOEUF 0.91 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 89.18 · 4 PDB
Residue 208: an α-helix

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

Disease context

retinitis pigmentosa — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: congenital stationary night blindness autosomal dominant 1

For Retinitis pigmentosa (Orphanet):

Inheritance: Autosomal dominant, Autosomal recessive, Mitochondrial inheritance
Onset: Adolescent, Adult, Childhood
Prevalence: 1-5 / 10 000 (Europe)

Similar variants

RHO c.936+1G>T Pathogenic/Likely pathogenic ★★ same condition
RHO p.Ala164Val Pathogenic/Likely pathogenic ★★ same condition
RHO p.Arg135Trp Pathogenic ★★ same condition
RHO p.Asn15Ser Pathogenic/Likely pathogenic ★★ ⚠ same condition
RHO p.Asp190Tyr Pathogenic ★★ same condition
RHO p.Cys110Arg Pathogenic/Likely pathogenic ★★ same condition
RHO p.Cys187Tyr Pathogenic/Likely pathogenic ★★ same condition
RHO p.Gln184Arg 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/rho-p-phe208 (accessed [today's date]).

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