Is RMND1 p.Ile261= (c.783C>T) pathogenic?

RMND1 p.Ile261= (c.783C>T) is classified Benign in RMND1 (ClinVar, Multiple submitters, 5 submitters; last evaluated 2026-01-17). Low-frequency (popmax 2.64%, afr); Associated with combined oxidative phosphorylation defect type 11.

What condition is associated with RMND1 p.Ile261= (c.783C>T)?

RMND1 p.Ile261= (c.783C>T) is associated with combined oxidative phosphorylation defect type 11 (ClinVar).

How common is RMND1 p.Ile261= (c.783C>T) in the general population?

RMND1 p.Ile261= (c.783C>T) is low-frequency (popmax 2.64%, afr) (gnomAD).

RMND1 p.Ile261=

Q: How is Combined oxidative phosphorylation defect type 11 inherited?

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

c.783C>T · rs17081207 · VCV138913

Benign Multiple submitters

Classification

Benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 5 submitters

gnomAD v4.1

Rare

low-frequency (popmax 2.64%, afr)

Conditions

combined oxidative phosphorylation defect type 11

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 -1.1	GERP -4.2
Overall
CADD	2.27	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 2.64% African / African-American · 1,975/74,888 alleles

Filtering AF 2.54% ClinGen BA1/BS1 input FAF95, joint · FAF99 2.5%

Overall 0.164% 2,639/1,612,444 alleles · low-frequency exomes 1,470/1,460,270 · genomes 1,169/152,174 · joint denominator

Ancestry group	Frequency	1 in
African / African-Americangrpmax	2.64%	38
Ashkenazi Jewishnot grpmax-eligible	0.734%	136
Middle Eastern	0.231%	433
Remaining individualsnot grpmax-eligible	0.2%	499
Admixed American	0.187%	536
South Asian	0.0373%	2,678
European (non-Finnish)	0.0135%	7,414
East Asian	0.0067%	14,933

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: RMND1
Protein: p.Ile261=
Coding: c.783C>T
MANE Select: NM_017909
dbSNP: rs17081207
Type: single nucleotide variant
Location: chr6:151427529 (GRCh38)
Gene constraint: LOEUF 0.851 · pLI 0.02 (gnomAD)
Structure: AlphaFold pLDDT 70.28

Full RMND1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

combined oxidative phosphorylation defect type 11 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Combined oxidative phosphorylation defect type 11 (Orphanet):

Inheritance: Autosomal recessive
Onset: Infancy, Neonatal

Similar variants

RMND1 c.504+1G>A Pathogenic/Likely pathogenic ★★ same condition
RMND1 p.Arg23Ter Pathogenic/Likely pathogenic ★★ same condition
RMND1 p.Arg417Gln Pathogenic/Likely pathogenic ★★ ⚠ same condition
RMND1 p.Asn238Ser Pathogenic ★★ same condition
RMND1 p.Asp205Tyr Likely pathogenic ★★ ⚠ same condition
RMND1 p.Ter450Ser Pathogenic/Likely pathogenic ★★ same condition
RMND1 p.Tyr196Ter Likely pathogenic ★★ same condition
RMND1 c.1002+6T>C 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/rmnd1-p-ile261 (accessed [today's date]).

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