Is ROM1 p.Val61= (c.183C>A) pathogenic?

ROM1 p.Val61= (c.183C>A) is classified Conflicting classifications of pathogenicity in ROM1 (ClinVar, Conflicting submitters, 2 submitters; last evaluated 2025-03-04). Very rare (popmax 0.00267%, afr); Associated with retinitis pigmentosa.

What condition is associated with ROM1 p.Val61= (c.183C>A)?

ROM1 p.Val61= (c.183C>A) is associated with retinitis pigmentosa (ClinVar).

How common is ROM1 p.Val61= (c.183C>A) in the general population?

ROM1 p.Val61= (c.183C>A) is very rare (popmax 0.00267%, afr) (gnomAD).

How is Retinitis pigmentosa inherited?

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

ROM1 p.Val61=

c.183C>A · rs886048440 · VCV305162

Conflicting classifications of pathogenicity Conflicting submitters

Classification

Conflicting classifications of pathogenicity

ClinVar

Review

Conflicting submitters ★☆☆☆

ClinVar · 2 submitters

gnomAD v4.1

Rare

very rare (popmax 0.00267%, 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 -0.047	GERP 0.41
Overall
CADD	3.048	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00267% African / African-American · 2/74,916 alleles

Filtering AF 0.000878% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.000718%

Overall 0.00118% 19/1,613,160 alleles · very rare exomes 17/1,460,928 · genomes 2/152,232 · joint denominator

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.00267%	37,458
European (non-Finnish)	0.00144%	69,390

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: ROM1
Protein: p.Val61=
Coding: c.183C>A
MANE Select: NM_000327
dbSNP: rs886048440
Type: single nucleotide variant
Location: chr11:62613464 (GRCh38)
Gene constraint: LOEUF 1.003 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 86.56 · 1 PDB

Full ROM1 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

For Retinitis pigmentosa (Orphanet):

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

Similar variants

ROM1 p.Val61Ala Uncertain significance ★ ⚠ same residue
ROM1 p.Ala265Thr Uncertain significance ★★ ⚠ same condition
ROM1 p.Ala329Val Uncertain significance ★★ ⚠ same condition
ROM1 p.Arg193Gly Uncertain significance ★★ ⚠ same condition
ROM1 p.Arg223Trp Uncertain significance ★★ ⚠ same condition
ROM1 p.Arg287Trp Uncertain significance ★★ ⚠ same condition
ROM1 p.Asp317Gly Uncertain significance ★★ ⚠ same condition
ROM1 p.Cys168Arg Uncertain significance ★★ ⚠ 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/rom1-p-val61 (accessed [today's date]).

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