Is CHD7 p.Ala797= (c.2391A>G) pathogenic?

CHD7 p.Ala797= (c.2391A>G) is classified Likely benign in CHD7 (ClinVar, Multiple submitters, 2 submitters; last evaluated 2024-10-01). Very rare (popmax 0.00234%, sas); Associated with CHARGE syndrome.

What condition is associated with CHD7 p.Ala797= (c.2391A>G)?

CHD7 p.Ala797= (c.2391A>G) is associated with CHARGE syndrome (ClinVar).

How common is CHD7 p.Ala797= (c.2391A>G) in the general population?

CHD7 p.Ala797= (c.2391A>G) is very rare (popmax 0.00234%, sas) (gnomAD).

CHD7 p.Ala797=

c.2391A>G · rs1812312012 · VCV2155918

Likely benign Multiple submitters

Classification

Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

gnomAD v4.1

Rare

very rare (popmax 0.00234%, sas)

Conditions

CHARGE syndrome

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 3.1	GERP 0.99, phastCons 1
Overall
CADD	8.882	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00234% South Asian · 2/85,492 alleles

Filtering AF 0.000388% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.000145%

Overall 0.000281% 4/1,421,404 alleles · very rare

Ancestry group	Frequency	1 in
South Asiangrpmax	0.00234%	42,746
African / African-American	0.00135%	74,098
European (non-Finnish)	8.64e-05%	1,158,041

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: CHD7
Protein: p.Ala797=
Coding: c.2391A>G
MANE Select: NM_017780
dbSNP: rs1812312012
Type: single nucleotide variant
Location: chr8:60801542 (GRCh38)
Gene constraint: LOEUF 0.109 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Residue 797: the 'disordered' region

Full CHD7 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

CHARGE syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

CHD7 c.2097-2A>G Pathogenic ★★ same condition
CHD7 c.2238+1G>A Pathogenic ★★ same condition
CHD7 c.2377-1G>A Likely pathogenic ★★ same condition
CHD7 c.2613+1G>A Pathogenic/Likely pathogenic ★★ same condition
CHD7 c.2836-1G>A Pathogenic/Likely pathogenic ★★ same condition
CHD7 c.2836-2A>T Pathogenic ★★ same condition
CHD7 c.2957+2T>C Pathogenic ★★ same condition
CHD7 c.3202-3T>G Pathogenic/Likely 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/chd7-p-ala797 (accessed [today's date]).

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