Is GAL p.Ala102= (c.306C>T) pathogenic?

GAL p.Ala102= (c.306C>T) is classified Likely benign in GAL (ClinVar, Multiple submitters, 2 submitters; last evaluated 2022-07-19). Rare (popmax 0.137%, afr); Associated with familial temporal lobe epilepsy 8.

What condition is associated with GAL p.Ala102= (c.306C>T)?

GAL p.Ala102= (c.306C>T) is associated with familial temporal lobe epilepsy 8 (ClinVar).

How common is GAL p.Ala102= (c.306C>T) in the general population?

GAL p.Ala102= (c.306C>T) is rare (popmax 0.137%, afr) (gnomAD).

GAL p.Ala102=

c.306C>T · rs147122838 · VCV542526

Likely benign Multiple submitters

Classification

Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

gnomAD v4.1

Rare

rare (popmax 0.137%, afr)

Conditions

familial temporal lobe epilepsy 8

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	<0.2	all four deltas below 0.2 · C>A here scores Δ0.23 · evaluated, not missing
Constraint at this position
Conservation	phyloP -10	GERP -3.2
Overall
CADD	1.154	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.137% African / African-American · 103/74,940 alleles

Filtering AF 0.116% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.108%

Overall 0.00776% 125/1,610,884 alleles · rare exomes 56/1,458,660 · genomes 69/152,224 · joint denominator

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.137%	728
Middle Eastern	0.0165%	6,060
Admixed American	0.015%	6,669
Remaining individualsnot grpmax-eligible	0.00801%	12,480
East Asian	0.00223%	44,872
South Asian	0.0022%	45,517
European (non-Finnish)	0.00034%	294,380

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: GAL
Protein: p.Ala102=
Coding: c.306C>T
MANE Select: NM_015973
dbSNP: rs147122838
Type: single nucleotide variant
Location: chr11:68690921 (GRCh38)
Structure: AlphaFold pLDDT 66.71

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

Disease context

familial temporal lobe epilepsy 8 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

GAL p.Ala10Thr Uncertain significance ★★ ⚠ same condition
GAL p.Ala15Thr Uncertain significance ★★ ⚠ same condition
GAL p.Arg67Trp Uncertain significance ★★ ⚠ same condition
GAL p.Arg88His Uncertain significance ★★ ⚠ same condition
GAL p.Asp106Asn Uncertain significance ★★ ⚠ same condition
GAL p.Asp106His Uncertain significance ★★ ⚠ same condition
GAL p.Glu69Lys Uncertain significance ★★ ⚠ same condition
GAL p.Leu60Phe 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/gal-p-ala102 (accessed [today's date]).

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