Is RMND1 p.Gly26Val (c.77G>T) pathogenic?

RMND1 p.Gly26Val (c.77G>T) is classified Uncertain significance in RMND1 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-03-02). AlphaMissense: likely benign (0.0767); Absent from gnomAD v4.1.

How common is RMND1 p.Gly26Val (c.77G>T) in the general population?

RMND1 p.Gly26Val (c.77G>T) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about RMND1 p.Gly26Val (c.77G>T)?

AlphaMissense predicts likely benign (score 0.0767) — an in-silico prediction, not a clinical call.

RMND1 p.Gly26Val

c.77G>T · rs1780936820 · VCV1704840

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely benign

0.0767 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

0/3 damaging

AlphaMissense, REVEL, SaProt

Computational evidence

Protein change
AlphaMissense	0.0767	likely benign
REVEL	0.008	strongly benign-leaning
SaProt	LLR -7.24	tolerated
⇒ AlphaMissense, REVEL and SaProt all call this tolerated.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Regional constraint	o/e 0.86	unconstrained · MANE · 41 kb · p 0.0012 · regional, not allelic
Overall
CADD	0.189	PHRED · no single calibrated threshold — expert panels disagree

ClinVar classifies this uncertain; the computational predictors unanimously lean tolerated — a triage signal, not a reclassification

AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: RMND1
Protein: p.Gly26Val
Coding: c.77G>T
MANE Select: NM_017909
dbSNP: rs1780936820
Type: single nucleotide variant
Location: chr6:151445735 (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

Similar variants

RMND1 p.Gly26Ser Uncertain significance ★ ⚠ same residue
RMND1 c.504+1G>A Pathogenic/Likely pathogenic ★★ same type
RMND1 p.Arg23Ter Pathogenic/Likely pathogenic ★★ same type
RMND1 p.Arg417Gln Pathogenic/Likely pathogenic ★★ ⚠ same type
RMND1 p.Asn238Ser Pathogenic ★★ same type
RMND1 p.Asp205Tyr Likely pathogenic ★★ ⚠ same type
RMND1 p.Ter450Arg Pathogenic/Likely pathogenic ★★ same type
RMND1 p.Ter450Ser Pathogenic/Likely pathogenic ★★ same type

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-gly26val (accessed [today's date]).

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