Is DAGLA p.Ala365= (c.1095G>A) pathogenic?

DAGLA p.Ala365= (c.1095G>A) is classified Likely benign in DAGLA (ClinVar, Single submitter, 1 submitter; last evaluated 2025-12-09). Ultra-rare (popmax 0.0329%, sas); Associated with Inborn genetic diseases.

What condition is associated with DAGLA p.Ala365= (c.1095G>A)?

DAGLA p.Ala365= (c.1095G>A) is associated with Inborn genetic diseases (ClinVar).

How common is DAGLA p.Ala365= (c.1095G>A) in the general population?

DAGLA p.Ala365= (c.1095G>A) is ultra-rare (popmax 0.0329%, sas) (gnomAD).

DAGLA p.Ala365=

c.1095G>A · VCV4616934

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

ultra-rare (popmax 0.0329%, sas)

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 -16	GERP -2.9
Overall
CADD	0.242	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0329% South Asian · 30/91,082 alleles

Filtering AF 0.0237% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0205%

Overall 0.00613% 99/1,614,024 alleles · ultra-rare

Ancestry group	Frequency	1 in
South Asiangrpmax	0.0329%	3,036
Remaining individualsnot grpmax-eligible	0.0096%	10,418
European (non-Finnish)	0.005%	19,999
Admixed American	0.00333%	30,009
African / African-American	0.00266%	37,531

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: DAGLA
Protein: p.Ala365=
Coding: c.1095G>A
MANE Select: NM_006133
Type: single nucleotide variant
Location: chr11:61734969 (GRCh38)
Gene constraint: LOEUF 0.305 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 63.87

Full DAGLA 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

DAGLA p.Ile823Thr Uncertain significance ★★ ⚠ same condition
DAGLA p.Val117Ile Likely benign ★★ same condition
DAGLA p.Ala253Thr Uncertain significance ★ ⚠ same condition
DAGLA p.Ala336Thr Uncertain significance ★ ⚠ same condition
DAGLA p.Ala351Thr Uncertain significance ★ ⚠ same condition
DAGLA p.Ala518Ser Uncertain significance ★ ⚠ same condition
DAGLA p.Ala614Ser Uncertain significance ★ ⚠ same condition
DAGLA p.Ala716Val 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/dagla-p-ala365 (accessed [today's date]).

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