STRC p.Arg1406=
c.4218G>A · rs748718937 · VCV2636883
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 0.00208%, nfe)
Conditions
1
STRC-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| Splicing | ||
| SpliceAI | Δ0.68 | donor loss · deltas |
|---|---|---|
| Pangolin | Δ0.45 | loss · gain 0.11 · agrees with SpliceAI · independent |
| Constraint at this position | ||
| Conservation | phyloP 1.7 | GERP -0.071, phastCons 1 |
| Overall | ||
| CADD | 22.3 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00208%
European (non-Finnish) · 24/1,151,710 alleles
Filtering AF
0.00141%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00119%
Overall
0.00166%
26/1,566,096 alleles · very rare
exomes 25/1,414,304 · genomes 1/151,792 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.00208% | 47,988 |
| Remaining individualsnot grpmax-eligible | 0.00165% | 60,630 |
| African / African-American | 0.00135% | 73,828 |
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
- STRC
- Protein
- p.Arg1406=
- Coding
- c.4218G>A
- MANE Select
- NM_153700
- dbSNP
- rs748718937
- Type
- single nucleotide variant
- Location
- chr15:43604361 (GRCh38)
- Gene constraint
- LOEUF 0.713 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 69.21
Disease context
STRC-related disorder
Similar variants
- STRC c.4219-1G>A Pathogenic/Likely pathogenic ★★ same condition
- STRC p.Arg1073Ter Pathogenic ★★ same condition
- STRC p.Arg1338Ter Pathogenic/Likely pathogenic ★★ same condition
- STRC p.Arg1729Ter Pathogenic ★★ same condition
- STRC p.Arg1730Ter Pathogenic/Likely pathogenic ★★ same condition
- STRC p.Gln1343Ter Pathogenic/Likely pathogenic ★★ same condition
- STRC p.Gln1353Ter Pathogenic ★★ same condition
- STRC p.Trp1475Cys Pathogenic/Likely 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/strc-p-arg1406 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown