EMC1 p.Val185=
c.555G>A · rs746674701 · VCV1024783
Conflicting classifications of pathogenicity
Conflicting submitters
Classification
Conflicting classifications of pathogenicity
ClinVar
Review
Conflicting submitters ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.02%, eas)
Conditions
1
inherited retinal dystrophy
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 -0.12 | GERP -4, phastCons 0.14 |
| Overall | ||
| CADD | 8.631 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.02%
East Asian · 9/44,888 alleles
Filtering AF
0.0104%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00779%
Overall
0.000558%
9/1,614,168 alleles · ultra-rare
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
- EMC1
- Protein
- p.Val185=
- Coding
- c.555G>A
- MANE Select
- NM_015047
- dbSNP
- rs746674701
- Type
- single nucleotide variant
- Location
- chr1:19241097 (GRCh38)
- Gene constraint
- LOEUF 0.913 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 87.67 · 10 PDB
- Residue 185
- a β-strand
Similar variants
- EMC1 p.Val185Met Uncertain significance ★ ⚠ same residue
- EMC1 p.Arg69Ter Pathogenic/Likely pathogenic ★★ same condition
- EMC1 p.Ala21Thr Uncertain significance ★★ ⚠ same condition
- EMC1 p.Arg275Gly Uncertain significance ★★ ⚠ same condition
- EMC1 p.Arg275Trp Uncertain significance ★★ ⚠ same condition
- EMC1 p.Arg288Trp Uncertain significance ★★ ⚠ same condition
- EMC1 p.Arg384Trp Uncertain significance ★★ ⚠ same condition
- EMC1 p.Arg802Cys 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/emc1-p-val185 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown