Is AVPR2 p.Val279del (c.832GTC[1]) pathogenic?

AVPR2 p.Val279del (c.832GTC[1]) is classified Pathogenic/Likely pathogenic in AVPR2 (ClinVar, Multiple submitters, 3 submitters; last evaluated 2025-09-02). Absent from gnomAD; Associated with diabetes insipidus, nephrogenic, X-linked.

What condition is associated with AVPR2 p.Val279del (c.832GTC[1])?

AVPR2 p.Val279del (c.832GTC[1]) is associated with diabetes insipidus, nephrogenic, X-linked (ClinVar).

How common is AVPR2 p.Val279del (c.832GTC[1]) in the general population?

AVPR2 p.Val279del (c.832GTC[1]) is absent from gnomAD (gnomAD).

How is Arginine vasopressin resistance inherited?

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

AVPR2 p.Val279del

c.832GTC[1] · rs2064967091 · VCV975064

Pathogenic/Likely pathogenic Multiple submitters

Classification

Pathogenic/Likely pathogenic

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 3 submitters

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

diabetes insipidus, nephrogenic, X-linked

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 1.4	GERP -2.2, phastCons 1

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: AVPR2
Protein: p.Val279del
Coding: c.832GTC[1]
MANE Select: NM_000054
dbSNP: rs2064967091
Type: Microsatellite
Location: chrX:153906338 (GRCh38)
Structure: AlphaFold pLDDT 76.84 · 44 PDB
Residue 279: an α-helix

Full AVPR2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

diabetes insipidus, nephrogenic, X-linked — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Arginine vasopressin resistance (Orphanet):

Inheritance: Autosomal dominant, Autosomal recessive, X-linked recessive
Onset: Infancy, Neonatal
Prevalence: 1-9 / 1 000 000 (Europe)

Similar variants

AVPR2 p.Val279= Uncertain significance ★★ same residue
AVPR2 p.Val270fs Pathogenic ★ same condition
AVPR2 p.64RRG[1] Conflicting classifications of pathogenicity ★ same condition
AVPR2 p.Ser21_Asn22insLeuProSer Uncertain significance ★ same condition
AVPR2 p.Val279Ile Uncertain significance ★ ⚠ same residue
AVPR2 p.Arg104Cys Pathogenic/Likely pathogenic ★★ ⚠ same condition
AVPR2 p.Arg113Trp Pathogenic ★★ same condition
AVPR2 p.Arg137His Pathogenic ★★ 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/avpr2-p-val279del (accessed [today's date]).

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