Is SGCE p.Pro242Ser (c.724C>T) pathogenic?

SGCE p.Pro242Ser (c.724C>T) is classified Uncertain significance in SGCE (ClinVar, Single submitter, 1 submitter; last evaluated 2021-05-21). AlphaMissense: likely benign (0.3104); Absent from gnomAD v4.1; Associated with myoclonic dystonia 11.

What condition is associated with SGCE p.Pro242Ser (c.724C>T)?

SGCE p.Pro242Ser (c.724C>T) is associated with myoclonic dystonia 11 (ClinVar).

How common is SGCE p.Pro242Ser (c.724C>T) in the general population?

SGCE p.Pro242Ser (c.724C>T) is absent from gnomAD v4.1 (gnomAD).

How is Myoclonus-dystonia syndrome inherited?

Typically Autosomal dominant, Not applicable (Orphanet). A genetic counselor can assess individual risk for a family.

What do computational predictors say about SGCE p.Pro242Ser (c.724C>T)?

AlphaMissense predicts likely benign (score 0.3104) — an in-silico prediction, not a clinical call.

SGCE p.Pro242Ser

c.724C>T · rs1554345175 · VCV464159

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely benign

0.3104 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

1/3 damaging

AlphaMissense, REVEL, SaProt

Conditions

myoclonic dystonia 11

⚠ Built without this gene's context — gene constraint and dosage, protein structure, pathways, panels and related-variant links were not looked up for this page. why

Computational evidence

Protein change
AlphaMissense	0.3104	likely benign
REVEL	0.812	moderately pathogenic-leaning
SaProt	LLR -7.70	tolerated
⇒ REVEL calls this damaging; AlphaMissense and SaProt do not.
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP 9.9	GERP 1.7, phastCons 1
Regional constraint	o/e 0.85	unconstrained · MANE · 71 kb · p 0.00058 · regional, not allelic
Overall
CADD	27.3	PHRED · no single calibrated threshold — expert panels disagree

AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.

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: SGCE
Protein: p.Pro242Ser
Coding: c.724C>T
MANE Select: NM_003919
dbSNP: rs1554345175
Type: single nucleotide variant
Location: chr7:94603391 (GRCh38)

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

Disease context

myoclonic dystonia 11 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Myoclonus-dystonia syndrome (Orphanet):

Inheritance: Autosomal dominant, Not applicable
Onset: Adolescent, Adult, Childhood
Prevalence: 1-9 / 1 000 000 (Europe)

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/sgce-p-pro242ser (accessed [today's date]).

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