SFTPC p.Gln79=
c.237G>A · rs957889901 · VCV908425
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 8.47e-05%, nfe)
Conditions
2
interstitial lung disease 2
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 5 | GERP -0.91, phastCons 1 |
| Overall | ||
| CADD | 6.897 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
8.47e-05%
European (non-Finnish) · 1/1,180,028 alleles
Overall
6.2e-05%
1/1,614,168 alleles · very rare
exomes 1/1,461,852 · genomes 0/152,316 · 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
- SFTPC
- Protein
- p.Gln79=
- Coding
- c.237G>A
- MANE Select
- NM_001317778
- dbSNP
- rs957889901
- Type
- single nucleotide variant
- Location
- chr8:22163115 (GRCh38)
- Gene constraint
- LOEUF 1 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 70.71 · 3 PDB
Similar variants
- SFTPC c.435+2T>C Pathogenic/Likely pathogenic ★★ same condition
- SFTPC p.Ile73Thr Pathogenic/Likely pathogenic ★★ ⚠ same condition
- SFTPC c.*193C>A Uncertain significance ★★ same condition
- SFTPC p.Ile50Met Uncertain significance ★★ ⚠ same condition
- SFTPC p.Leu45Pro Uncertain significance ★★ ⚠ same condition
- SFTPC p.Val39Met Uncertain significance ★★ ⚠ same condition
- SFTPC c.201+14G>A Benign/Likely benign ★★ same condition
- SFTPC c.201+49C>A Benign ★★ 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/sftpc-p-gln79 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown