Is NLRP7 p.Ala726Val (c.2177C>T) pathogenic?

NLRP7 p.Ala726Val (c.2177C>T) is classified Likely pathogenic in NLRP7 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-12-21). AlphaMissense: likely benign (0.3395); Absent from gnomAD v4.1; Associated with hydatidiform mole, recurrent, 1.

What condition is associated with NLRP7 p.Ala726Val (c.2177C>T)?

NLRP7 p.Ala726Val (c.2177C>T) is associated with hydatidiform mole, recurrent, 1 (ClinVar).

How common is NLRP7 p.Ala726Val (c.2177C>T) in the general population?

NLRP7 p.Ala726Val (c.2177C>T) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about NLRP7 p.Ala726Val (c.2177C>T)?

AlphaMissense predicts likely benign (score 0.3395) — an in-silico prediction, not a clinical call.

NLRP7 p.Ala726Val

c.2177C>T · VCV3376766

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely benign

0.3395 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

1/3 damaging

AlphaMissense, REVEL, SaProt

Conditions

hydatidiform mole, recurrent, 1

Computational evidence

Protein change
AlphaMissense	0.3395	likely benign ⚠ discordant with ClinVar
REVEL	0.136	moderately benign-leaning
SaProt	LLR -10.59	damaging
⇒ SaProt calls this damaging; AlphaMissense and REVEL do not.
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP 0.38	GERP 3.8
Overall
CADD	14.68	PHRED · no single calibrated threshold — expert panels disagree

AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: NLRP7
Protein: p.Ala726Val
Coding: c.2177C>T
MANE Select: NM_004829 · reported on NM_001127255
Type: single nucleotide variant
Location: chr19:54936384 (GRCh38)

Full NLRP7 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

hydatidiform mole, recurrent, 1 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

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/nlrp7-p-ala726val (accessed [today's date]).

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