Is CLDN19 p.Val176= (c.528G>T) pathogenic?

CLDN19 p.Val176= (c.528G>T) is classified Likely benign in CLDN19 (ClinVar, Single submitter, 1 submitter; last evaluated 2024-08-05). Absent from gnomAD v4.1; Associated with Inborn genetic diseases.

What condition is associated with CLDN19 p.Val176= (c.528G>T)?

CLDN19 p.Val176= (c.528G>T) is associated with Inborn genetic diseases (ClinVar).

How common is CLDN19 p.Val176= (c.528G>T) in the general population?

CLDN19 p.Val176= (c.528G>T) is absent from gnomAD v4.1 (gnomAD).

CLDN19 p.Val176=

c.528G>T · VCV3493381

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 1,575,278)

Conditions

Inborn genetic diseases

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
REVEL	0.212	benign-leaning
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -0.26	GERP -3.4, phastCons 0.19
Overall
CADD	1.55	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,575,278). 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: CLDN19
Protein: p.Val176=
Coding: c.528G>T
MANE Select: NM_148960
Type: single nucleotide variant
Location: chr1:42735976 (GRCh38)
Gene constraint: LOEUF 1.254 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 81.08

Full CLDN19 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

CLDN19 p.Val176Met Conflicting classifications of pathogenicity ★ ⚠ same residue
CLDN19 p.Val176Leu Uncertain significance ★ ⚠ same residue
CLDN19 p.Ala55Thr Uncertain significance ★★ ⚠ same condition
CLDN19 p.Arg106Trp Uncertain significance ★★ ⚠ same condition
CLDN19 p.Arg208Gln Uncertain significance ★★ ⚠ same condition
CLDN19 p.Leu50Ile Uncertain significance ★★ ⚠ same condition
CLDN19 p.Leu50Phe Uncertain significance ★★ ⚠ same condition
CLDN19 p.Pro112Leu 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/cldn19-p-val176 (accessed [today's date]).

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