Is MYO7A p.Tyr298= (c.894C>T) pathogenic?

MYO7A p.Tyr298= (c.894C>T) is classified Likely benign in MYO7A (ClinVar, Multiple submitters, 3 submitters; last evaluated 2026-01-05). Very rare (popmax 0.00892%, eas); Associated with Usher syndrome type 1B.

What condition is associated with MYO7A p.Tyr298= (c.894C>T)?

MYO7A p.Tyr298= (c.894C>T) is associated with Usher syndrome type 1B (ClinVar).

How common is MYO7A p.Tyr298= (c.894C>T) in the general population?

MYO7A p.Tyr298= (c.894C>T) is very rare (popmax 0.00892%, eas) (gnomAD).

MYO7A p.Tyr298=

c.894C>T · rs554789699 · VCV752429

Likely benign Multiple submitters

Classification

Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 3 submitters

gnomAD v4.1

Rare

very rare (popmax 0.00892%, eas)

Conditions

Usher syndrome type 1B

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 -10	GERP -3.5
Overall
CADD	5.419	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00892% East Asian · 4/44,854 alleles

Filtering AF 0.00298% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0018%

Overall 0.0044% 71/1,612,488 alleles · very rare exomes 60/1,460,298 · genomes 11/152,190 · joint denominator

Ancestry group	Frequency	1 in
Finnishnot grpmax-eligible	0.0643%	1,554
East Asiangrpmax	0.00892%	11,214
Remaining individualsnot grpmax-eligible	0.00641%	15,603
African / African-American	0.00534%	18,730
South Asian	0.0022%	45,450
Admixed American	0.00167%	59,932
European (non-Finnish)	0.00127%	78,614

Finnish shows a higher raw frequency than the grpmax group above it. gnomAD excludes bottlenecked groups — Finnish, Ashkenazi Jewish, Amish and “Remaining individuals” — from grpmax, because founder effects make their frequencies unrepresentative for filtering. The table is sorted by frequency, so an excluded group can sit above the grpmax row.

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.Tyr298=
Coding: c.894C>T
MANE Select: NM_000260
dbSNP: rs554789699
Type: single nucleotide variant
Location: chr11:77158321 (GRCh38)
Gene constraint: LOEUF 0.995 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 77.73 · 1 PDB
Residue 298: the myosin motor domain

Full MYO7A gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Usher syndrome type 1B — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

MYO7A p.Tyr298Asn Uncertain significance ★ ⚠ same residue
MYO7A p.Tyr298Ser Uncertain significance ★ ⚠ same residue
MYO7A p.Ala1288Pro Likely pathogenic ★★★ same condition
MYO7A p.Arg1168Gln Pathogenic ★★★ ⚠ same condition
MYO7A p.Arg1873Gln Pathogenic ★★★ ⚠ same condition
MYO7A p.Arg395Cys Likely pathogenic ★★★ ⚠ same condition
MYO7A p.Arg668Cys Pathogenic ★★★ same condition
MYO7A p.Arg853His 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/myo7a-p-tyr298 (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown