ROGDI p.Arg44=
c.132C>G · rs1158092390 · VCV2869016
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0124%, sas)
Conditions
1
amelocerebrohypohidrotic syndrome
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 0.83 | GERP -2, phastCons 0.98 |
| Overall | ||
| CADD | 9.76 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0124%
South Asian · 11/88,742 alleles
Filtering AF
0.00693%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00534%
Overall
0.000687%
11/1,601,260 alleles · ultra-rare
exomes 11/1,448,880 · genomes 0/152,380 · joint denominator
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
- ROGDI
- Protein
- p.Arg44=
- Coding
- c.132C>G
- MANE Select
- NM_024589
- dbSNP
- rs1158092390
- Type
- single nucleotide variant
- Location
- chr16:4801571 (GRCh38)
- Gene constraint
- LOEUF 1.648 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 89.59 · 2 PDB
- Residue 44
- an α-helix
Similar variants
- ROGDI c.117+1G>A Pathogenic/Likely pathogenic ★★ same condition
- ROGDI c.46-2A>G Likely pathogenic ★★ same condition
- ROGDI c.531+5G>C Likely pathogenic ★★ same condition
- ROGDI c.645+2T>A Likely pathogenic ★★ same condition
- ROGDI p.Arg157Ter Pathogenic ★★ same condition
- ROGDI p.Gln112Ter Pathogenic/Likely pathogenic ★★ same condition
- ROGDI p.Gln114Ter Pathogenic/Likely pathogenic ★★ same condition
- ROGDI p.Gln96Ter 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/rogdi-p-arg44 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown