Is LOX p.Val76fs (c.210_226dup) pathogenic?

LOX p.Val76fs (c.210226dup) is classified Pathogenic in LOX (ClinVar, Multiple submitters, 2 submitters; last evaluated 2024-10-19). Absent from gnomAD; Associated with Cardiovascular phenotype.

What condition is associated with LOX p.Val76fs (c.210_226dup)?

LOX p.Val76fs (c.210_226dup) is associated with Cardiovascular phenotype (ClinVar).

How common is LOX p.Val76fs (c.210_226dup) in the general population?

LOX p.Val76fs (c.210_226dup) is absent from gnomAD (gnomAD).

LOX p.Val76fs

c.210_226dup · rs2532917759 · VCV1785898

Pathogenic Multiple submitters

Classification

Pathogenic

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

Cardiovascular phenotype

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function in a LoF-intolerant gene
NMD	predicted	premature termination codon in exon 1 of 7
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 2.8	GERP -1.5, phastCons 0.99

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

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: LOX
Protein: p.Val76fs
Coding: c.210_226dup
MANE Select: NM_002317
dbSNP: rs2532917759
Type: Duplication
Location: chr5:122077759 (GRCh38)
Gene constraint: LOEUF 0.503 · pLI 0.98 (gnomAD)
Structure: AlphaFold pLDDT 68.06
Residue 76: the 'disordered' region

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

Disease context

Cardiovascular phenotype — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

LOX p.Gln44fs Conflicting classifications of pathogenicity ★ ⚠ same condition
LOX p.Val76_Ala80del Uncertain significance ★ same residue
LOX p.Arg281fs Pathogenic ★★ same condition
LOX p.Arg281Ter Pathogenic/Likely pathogenic ★★ same condition
LOX p.Gln209fs Pathogenic/Likely pathogenic ★★ same condition
LOX p.Gly202Ter Pathogenic/Likely pathogenic ★★ same condition
LOX p.Leu13fs Pathogenic ★★ same condition
LOX c.1247+1G>A 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/lox-p-val76fs (accessed [today's date]).

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