Is ILK c.448+9= pathogenic?

ILK c.448+9= is classified Benign in ILK (ClinVar, Single submitter, 3 submitters; last evaluated 2026-02-04). Associated with familial hypertrophic cardiomyopathy.

What condition is associated with ILK c.448+9=?

ILK c.448+9= is associated with familial hypertrophic cardiomyopathy (ClinVar).

ILK c.448+9=

VCV1166101

Benign Single submitter

Classification

Benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 3 submitters

gnomAD v4.1

Rare

Conditions

familial hypertrophic cardiomyopathy

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
Splice region	donor +9	near-intronic (+9 nt from the splice site)
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP 0.17	GERP 0.36
Non-coding constraint	Z 4.86	1 kb window · o/e 0.68 · regional · uncalibrated

Variant & gene context

Gene: ILK
Coding: c.448+9=
MANE Select: NM_004517
Type: Variation
Location: chr11:6608799 (GRCh38)

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

Disease context

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

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/ilk-c-448-plus-9 (accessed [today's date]).

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