MYO7A p.Ser607=
c.1821G>A · rs397516288 · VCV43157
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 5 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.015%, afr)
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 0.043 | GERP -3.5, phastCons 0.5 |
| Overall | ||
| CADD | 9.887 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.015%
African / African-American · 11/73,436 alleles
Filtering AF
0.00831%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00645%
Overall
0.00603%
94/1,559,120 alleles · ultra-rare
exomes 79/1,406,806 · genomes 15/152,314 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.015% | 6,676 |
| Admixed American | 0.0115% | 8,708 |
| Remaining individualsnot grpmax-eligible | 0.00993% | 10,070 |
| European (non-Finnish) | 0.00582% | 17,196 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00348% | 28,730 |
| South Asian | 0.00237% | 42,170 |
| Finnishnot grpmax-eligible | 0.00167% | 59,792 |
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
- MYO7A
- Protein
- p.Ser607=
- Coding
- c.1821G>A
- MANE Select
- NM_000260
- dbSNP
- rs397516288
- Type
- single nucleotide variant
- Location
- chr11:77172771 (GRCh38)
- Gene constraint
- LOEUF 0.995 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 77.73 · 1 PDB
- Residue 607
- the myosin motor domain
Similar variants
- MYO7A p.Ser607Ter Pathogenic/Likely pathogenic ★★ same residue
- MYO7A p.Ser607Leu Uncertain significance ★★ same residue
- MYO7A p.Ser607Pro Uncertain significance ★ ⚠ same residue
- MYO7A p.Ala1288Pro Likely pathogenic ★★★ same type
- MYO7A p.Arg1168Gln Pathogenic ★★★ ⚠ same type
- MYO7A p.Arg1873Gln Pathogenic ★★★ ⚠ same type
- MYO7A p.Arg395Cys Likely pathogenic ★★★ ⚠ same type
- MYO7A p.Arg668Cys 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/myo7a-p-ser607 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown