Is MYH14 p.Phe782fs (c.2345del) pathogenic?

MYH14 p.Phe782fs (c.2345del) is classified Likely pathogenic in MYH14 (ClinVar, No assertion criteria, 1 submitter; last evaluated 2026-06-23). Associated with autosomal dominant nonsyndromic hearing loss 4A.

What condition is associated with MYH14 p.Phe782fs (c.2345del)?

MYH14 p.Phe782fs (c.2345del) is associated with autosomal dominant nonsyndromic hearing loss 4A (ClinVar).

MYH14 p.Phe782fs

c.2345del · VCV4886867

Likely pathogenic No assertion criteria

Classification

Likely pathogenic

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

autosomal dominant nonsyndromic hearing loss 4A

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function; NMD-escape possible for C-terminal truncations
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 2.4	GERP -1.4, phastCons 1

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Variant & gene context

Gene: MYH14
Protein: p.Phe782fs
Coding: c.2345del
MANE Select: NM_001145809
Type: Deletion
Location: chr19:50259255 (GRCh38)
Structure: AlphaFold pLDDT 73.79
Residue 782: the myosin motor domain

Full MYH14 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

autosomal dominant nonsyndromic hearing loss 4A — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

MYH14 p.Gln2036fs Pathogenic ★ same condition
MYH14 p.Leu1045fs Likely pathogenic ★ same condition
MYH14 p.Ala2033fs Uncertain significance ★ same condition
MYH14 p.Thr1997fs Pathogenic same condition
MYH14 c.-3-6C>T Uncertain significance ★★ same condition
MYH14 p.Ala1556Thr Uncertain significance ★★ ⚠ same condition
MYH14 p.Ala615Ser Uncertain significance ★★ ⚠ same condition
MYH14 p.Arg1087Trp Uncertain significance ★★ ⚠ 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/myh14-p-phe782fs (accessed [today's date]).

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