Is CERS1 p.Thr78= (c.234T>A) pathogenic?

CERS1 p.Thr78= (c.234T>A) is classified Likely benign in CERS1 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-05-10). Very rare (popmax 9.87e-05%, nfe); Associated with progressive myoclonic epilepsy type 8.

What condition is associated with CERS1 p.Thr78= (c.234T>A)?

CERS1 p.Thr78= (c.234T>A) is associated with progressive myoclonic epilepsy type 8 (ClinVar).

How common is CERS1 p.Thr78= (c.234T>A) in the general population?

CERS1 p.Thr78= (c.234T>A) is very rare (popmax 9.87e-05%, nfe) (gnomAD).

How is Progressive myoclonic epilepsy type 8 inherited?

Typically Autosomal recessive (Orphanet). A genetic counselor can assess individual risk for a family.

CERS1 p.Thr78=

c.234T>A · rs113536478 · VCV1992606

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 9.87e-05%, nfe)

Conditions

progressive myoclonic epilepsy type 8

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP 0.44	GERP -0.29, phastCons 0.023
Overall
CADD	12.68	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 9.87e-05% European (non-Finnish) · 1/1,013,620 alleles

Overall 8.84e-05% 1/1,131,442 alleles · very rare

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: CERS1
Protein: p.Thr78=
Coding: c.234T>A
MANE Select: NM_001492 · reported on NM_021267
dbSNP: rs113536478
Type: single nucleotide variant
Location: chr19:18895839 (GRCh38)

Full CERS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

progressive myoclonic epilepsy type 8 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Progressive myoclonic epilepsy type 8 (Orphanet):

Inheritance: Autosomal recessive
Onset: Adolescent, Childhood

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/cers1-p-thr78 (accessed [today's date]).

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