Is LOX p.Asp256= (c.768T>C) pathogenic?

LOX p.Asp256= (c.768T>C) is classified Likely benign in LOX (ClinVar, Multiple submitters, 2 submitters; last evaluated 2025-04-27). No allele count reported in gnomAD v4.1 (AN 1,612,010); Associated with familial thoracic aortic aneurysm and aortic dissection.

What condition is associated with LOX p.Asp256= (c.768T>C)?

LOX p.Asp256= (c.768T>C) is associated with familial thoracic aortic aneurysm and aortic dissection (ClinVar).

How common is LOX p.Asp256= (c.768T>C) in the general population?

LOX p.Asp256= (c.768T>C) is no allele count reported in gnomAD v4.1 (AN 1,612,010) (gnomAD).

LOX p.Asp256=

Q: How is Familial thoracic aortic aneurysm and aortic dissection inherited?

Typically Autosomal dominant (Orphanet). A genetic counselor can assess individual risk for a family.

c.768T>C · rs2532911616 · VCV2691196

Likely benign Multiple submitters

Classification

Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,612,010)

Conditions

familial thoracic aortic aneurysm and aortic dissection

⚠ Built without this gene's context — gene constraint and dosage, protein structure, pathways, panels and related-variant links were not looked up for this page. why

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP 0.37	GERP -3, phastCons 0.57
Overall
CADD	14.57	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,612,010). 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: LOX
Protein: p.Asp256=
Coding: c.768T>C
MANE Select: NM_002317
dbSNP: rs2532911616
Type: single nucleotide variant
Location: chr5:122075514 (GRCh38)

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

Disease context

familial thoracic aortic aneurysm and aortic dissection — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Familial thoracic aortic aneurysm and aortic dissection (Orphanet):

Inheritance: Autosomal dominant
Onset: Adolescent, Adult, Childhood

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/lox-p-asp256 (accessed [today's date]).

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