MYOC p.Val30=
c.90G>A · VCV4921267
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 8.47e-05%, nfe)
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 -2.1 | GERP -4.4 |
| Overall | ||
| CADD | 3.097 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
8.47e-05%
European (non-Finnish) · 1/1,180,030 alleles
Overall
6.19e-05%
1/1,614,220 alleles · very rare
exomes 1/1,461,862 · genomes 0/152,358 · 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
- MYOC
- Protein
- p.Val30=
- Coding
- c.90G>A
- MANE Select
- NM_000261
- Type
- single nucleotide variant
- Location
- chr1:171652522 (GRCh38)
- Gene constraint
- LOEUF 1.343 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 79.40 · 24 PDB
Similar variants
- MYOC p.Ala363Thr Likely pathogenic ★★★ same type
- MYOC p.Arg272Gly Likely pathogenic ★★★ same type
- MYOC p.Asn450Tyr Likely pathogenic ★★★ same type
- MYOC p.Asn480Lys Pathogenic ★★★ same type
- MYOC p.Asp380Ala Pathogenic ★★★ same type
- MYOC p.Asp380Gly Likely pathogenic ★★★ same type
- MYOC p.Asp380His Likely pathogenic ★★★ same type
- MYOC p.Asp380Tyr 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/myoc-p-val30 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown