Is ILK p.Asp189= (c.567C>T) pathogenic?

ILK p.Asp189= (c.567C>T) is classified Uncertain significance in ILK (ClinVar, Single submitter, 1 submitter; last evaluated 2023-10-22). Absent from gnomAD v4.1; Associated with familial hypertrophic cardiomyopathy.

What condition is associated with ILK p.Asp189= (c.567C>T)?

ILK p.Asp189= (c.567C>T) is associated with familial hypertrophic cardiomyopathy (ClinVar).

How common is ILK p.Asp189= (c.567C>T) in the general population?

ILK p.Asp189= (c.567C>T) is absent from gnomAD v4.1 (gnomAD).

ILK p.Asp189=

c.567C>T · rs2493769852 · VCV2917251

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

familial hypertrophic cardiomyopathy

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	<0.2	all four deltas below 0.2 · C>G here scores Δ0.54 · evaluated, not missing
Pangolin	Δ0.36	loss · gain 0.14 · SpliceAI below 0.2 · independent
Constraint at this position
Conservation	phyloP 6	GERP 1.9, phastCons 1
Overall
CADD	14.39	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: ILK
Protein: p.Asp189=
Coding: c.567C>T
MANE Select: NM_004517
dbSNP: rs2493769852
Type: single nucleotide variant
Location: chr11:6609105 (GRCh38)
Gene constraint: LOEUF 0.798 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 88.13 · 17 PDB
Residue 189: the 'ph-like; mediates interaction with tgfb1i1' region

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

Similar variants

ILK p.Ala41Val Uncertain significance ★★ ⚠ same condition
ILK p.Arg149Gln Uncertain significance ★★ ⚠ same condition
ILK p.Arg161Cys Uncertain significance ★★ ⚠ same condition
ILK p.Arg161His Uncertain significance ★★ ⚠ same condition
ILK p.Arg334Gln Uncertain significance ★★ ⚠ same condition
ILK p.Arg436Gln Uncertain significance ★★ ⚠ same condition
ILK p.Arg46Cys Uncertain significance ★★ ⚠ same condition
ILK p.Arg59Trp 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/ilk-p-asp189 (accessed [today's date]).

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