Is GJA8 p.Ser50= (c.150C>T) pathogenic?

GJA8 p.Ser50= (c.150C>T) is classified Likely benign in GJA8 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-03-04). Absent from gnomAD v4.1; Associated with cataract 1 multiple types.

What condition is associated with GJA8 p.Ser50= (c.150C>T)?

GJA8 p.Ser50= (c.150C>T) is associated with cataract 1 multiple types (ClinVar).

How common is GJA8 p.Ser50= (c.150C>T) in the general population?

GJA8 p.Ser50= (c.150C>T) is absent from gnomAD v4.1 (gnomAD).

GJA8 p.Ser50=

c.150C>T · rs1651877831 · VCV2741949

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

cataract 1 multiple types

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 -9.7	GERP -4.8
Overall
CADD	1.755	PHRED · no single calibrated threshold — expert panels disagree

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: GJA8
Protein: p.Ser50=
Coding: c.150C>T
MANE Select: NM_005267
dbSNP: rs1651877831
Type: single nucleotide variant
Location: chr1:147908105 (GRCh38)
Gene constraint: LOEUF 1.304 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
Structure: AlphaFold pLDDT 65.85

Full GJA8 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

cataract 1 multiple types — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

GJA8 p.Ser50Pro Uncertain significance ★ ⚠ same residue
GJA8 p.Arg76His Likely pathogenic ★★ same condition
GJA8 p.Asp47His Pathogenic/Likely pathogenic ★★ same condition
GJA8 p.Gly22Arg Likely pathogenic ★★ same condition
GJA8 p.Gly22Ser Pathogenic/Likely pathogenic ★★ same condition
GJA8 p.Gly46Glu Pathogenic ★★ same condition
GJA8 p.Gly60Ser Pathogenic/Likely pathogenic ★★ same condition
GJA8 p.Pro88Ala 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/gja8-p-ser50 (accessed [today's date]).

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