Is LTBP3 p.Pro270= (c.810G>A) pathogenic?

LTBP3 p.Pro270= (c.810G>A) is classified Likely benign in LTBP3 (ClinVar, Single submitter, 1 submitter; last evaluated 2020-08-20). No allele count reported in gnomAD v4.1 (AN 1,575,516); Associated with Inborn genetic diseases.

What condition is associated with LTBP3 p.Pro270= (c.810G>A)?

LTBP3 p.Pro270= (c.810G>A) is associated with Inborn genetic diseases (ClinVar).

How common is LTBP3 p.Pro270= (c.810G>A) in the general population?

LTBP3 p.Pro270= (c.810G>A) is no allele count reported in gnomAD v4.1 (AN 1,575,516) (gnomAD).

LTBP3 p.Pro270=

c.810G>A · rs774728452 · VCV1762033

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,575,516)

Conditions

Inborn genetic diseases

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -1.2	GERP -2.4, phastCons 0.001
Overall
CADD	7.391	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,575,516). 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: LTBP3
Protein: p.Pro270=
Coding: c.810G>A
MANE Select: NM_001130144
dbSNP: rs774728452
Type: single nucleotide variant
Location: chr11:65553755 (GRCh38)
Gene constraint: LOEUF 0.824 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 64.21
Residue 270: the 'disordered' region

Full LTBP3 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Inborn genetic diseases — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

LTBP3 p.Pro270Ser Uncertain significance ★★ ⚠ same residue
LTBP3 p.Pro270Thr Uncertain significance ★ ⚠ same residue
LTBP3 p.Ala1149Thr Uncertain significance ★★ ⚠ same condition
LTBP3 p.Ala1153Val Uncertain significance ★★ ⚠ same condition
LTBP3 p.Ala1182Val Uncertain significance ★★ ⚠ same condition
LTBP3 p.Ala1250Pro Uncertain significance ★★ ⚠ same condition
LTBP3 p.Ala1289Val Uncertain significance ★★ ⚠ same condition
LTBP3 p.Ala144Ser 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/ltbp3-p-pro270 (accessed [today's date]).

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