Is SLMAP p.Glu245fs (c.732del) pathogenic?

SLMAP p.Glu245fs (c.732del) is classified Uncertain significance in SLMAP (ClinVar, Single submitter, 1 submitter; last evaluated 2023-09-03). No gnomAD frequency available for this variant; Associated with Brugada syndrome.

What condition is associated with SLMAP p.Glu245fs (c.732del)?

SLMAP p.Glu245fs (c.732del) is associated with Brugada syndrome (ClinVar).

How common is SLMAP p.Glu245fs (c.732del) in the general population?

SLMAP p.Glu245fs (c.732del) is no gnomAD frequency available for this variant (gnomAD).

How is Brugada syndrome inherited?

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

SLMAP p.Glu245fs

c.732del · rs2473374833 · VCV2757439

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

Brugada syndrome

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function
NMD	predicted	premature termination codon in exon 9 of 25
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 7.7	GERP 2.7, phastCons 1

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: SLMAP
Protein: p.Glu245fs
Coding: c.732del
MANE Select: NM_001377540
dbSNP: rs2473374833
Type: Deletion
Location: chr3:57860742 (GRCh38)
Gene constraint: LOEUF 0.531 · pLI 0.86 (gnomAD)
Structure: AlphaFold pLDDT 77.74 · 3 PDB

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

Disease context

Brugada syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Brugada syndrome (Orphanet):

Inheritance: Autosomal dominant, Not applicable
Onset: Adult, Childhood
Prevalence: 1-5 / 10 000 (Europe)

Similar variants

SLMAP p.Leu146_Pro147del Uncertain significance ★★ same condition
SLMAP c.828+11del Benign ★★ same condition
SLMAP c.1501+1del Uncertain significance ★ same condition
SLMAP p.Glu302fs Uncertain significance ★ same condition
SLMAP p.Lys583del Uncertain significance ★ same condition
SLMAP c.1300+8del Likely benign ★ same condition
SLMAP c.1360+20_1360+21del Likely benign ★ same condition
SLMAP c.1361-9del Benign ★ 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/slmap-p-glu245fs (accessed [today's date]).

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