Is MYOM1 p.Val22Pro (c.64_66delinsCCC) pathogenic?

MYOM1 p.Val22Pro (c.6466delinsCCC) is classified Uncertain significance in MYOM1 (ClinVar, Single submitter, 1 submitter; last evaluated 2025-07-21). No gnomAD frequency available for this variant; Associated with hypertrophic cardiomyopathy.

What condition is associated with MYOM1 p.Val22Pro (c.64_66delinsCCC)?

MYOM1 p.Val22Pro (c.64_66delinsCCC) is associated with hypertrophic cardiomyopathy (ClinVar).

How common is MYOM1 p.Val22Pro (c.64_66delinsCCC) in the general population?

MYOM1 p.Val22Pro (c.64_66delinsCCC) is no gnomAD frequency available for this variant (gnomAD).

MYOM1 p.Val22Pro

c.64_66delinsCCC · rs386800438 · VCV862697

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

hypertrophic cardiomyopathy

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP -2.6	GERP -5.1
Regional constraint	o/e 0.95	unconstrained · MANE · 148 kb · p 0.012 · regional, not allelic

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: MYOM1
Protein: p.Val22Pro
Coding: c.64_66delinsCCC
MANE Select: NM_003803
dbSNP: rs386800438
Type: Indel
Location: chr18:3215158 (GRCh38)
Gene constraint: LOEUF 0.92 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 69.52 · 9 PDB
Residue 22: a UniProt-annotated variant site (in)

Full MYOM1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

hypertrophic cardiomyopathy — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

MYOM1 p.Val22Gly Uncertain significance ★★ ⚠ same residue
MYOM1 p.Val22= Benign ★★ same residue
MYOM1 p.Val22Leu Benign ★★ ⚠ same residue
MYOM1 p.Val22delinsAspArgAsnLysAspLeu Uncertain significance ★ same residue
MYOM1 p.Val22delinsAspLeuSerTyrArgAsnLysAspLeu Uncertain significance ★ same residue
MYOM1 p.Val22Met Uncertain significance ★ ⚠ same residue
MYOM1 c.1022_1022+1delinsCA Uncertain significance ★ same condition
MYOM1 c.4649-20_4649-19delinsGG 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/myom1-p-val22pro (accessed [today's date]).

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