Is FLNC p.Asp798fs (c.2391_2395del) pathogenic?

FLNC p.Asp798fs (c.23912395del) is classified Likely pathogenic in FLNC (ClinVar, Single submitter, 1 submitter; last evaluated 2019-09-05). Associated with FLNC-related disorder.

What condition is associated with FLNC p.Asp798fs (c.2391_2395del)?

FLNC p.Asp798fs (c.2391_2395del) is associated with FLNC-related disorder (ClinVar).

FLNC p.Asp798fs

c.2391_2395del · VCV4897827

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

FLNC-related disorder

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function in a haploinsufficient gene (ClinGen)
NMD	predicted	premature termination codon in exon 16 of 48
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 12	phastCons 1

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

Variant & gene context

Gene: FLNC
Protein: p.Asp798fs
Coding: c.2391_2395del
MANE Select: NM_001458
Type: Deletion
Location: chr7:128842794 (GRCh38)
Gene constraint: LOEUF 0.424 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)

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

Disease context

FLNC-related disorder

Similar variants

FLNC p.Cys1103fs Pathogenic/Likely pathogenic ★★ same condition
FLNC p.Thr943_Val944insTer Pathogenic/Likely pathogenic ★★ same condition
FLNC p.Asp798= Likely benign ★★ same residue
FLNC p.Asp798Asn Benign/Likely benign ★★ same residue
FLNC c.4457-10_4464del Likely pathogenic ★ same condition
FLNC p.Gln159fs Likely pathogenic ★ same condition
FLNC p.Glu1388fs Likely pathogenic ★ same condition
FLNC p.Glu2012fs 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/flnc-p-asp798fs (accessed [today's date]).

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