Is FLNC p.Asp1086Val (c.3257_3258delinsTA) pathogenic?

FLNC p.Asp1086Val (c.32573258delinsTA) is classified Uncertain significance in FLNC (ClinVar, Multiple submitters, 3 submitters; last evaluated 2024-05-22). No gnomAD frequency available for this variant; Associated with Cardiovascular phenotype.

What condition is associated with FLNC p.Asp1086Val (c.3257_3258delinsTA)?

FLNC p.Asp1086Val (c.3257_3258delinsTA) is associated with Cardiovascular phenotype, myofibrillar myopathy 5, distal myopathy with posterior leg and anterior hand involvement (ClinVar).

How common is FLNC p.Asp1086Val (c.3257_3258delinsTA) in the general population?

FLNC p.Asp1086Val (c.3257_3258delinsTA) is no gnomAD frequency available for this variant (gnomAD).

FLNC p.Asp1086Val

c.3257_3258delinsTA · rs2128936367 · VCV1489162

Uncertain significance Multiple submitters

Classification

Uncertain significance

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 3 submitters

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

Cardiovascular phenotype

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 11	phastCons 1
Regional constraint	o/e 0.84	unconstrained · MANE · 11 kb · p 8.4e-13 · regional, not allelic

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: FLNC
Protein: p.Asp1086Val
Coding: c.3257_3258delinsTA
MANE Select: NM_001458
dbSNP: rs2128936367
Type: Indel
Location: chr7:128844722 (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

Cardiovascular phenotype — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: myofibrillar myopathy 5 distal myopathy with posterior leg and anterior hand involvement hypertrophic cardiomyopathy 26

Similar variants

FLNC p.Asp1086Asn Uncertain significance ★ same residue
FLNC p.Asp1086Glu Uncertain significance ★ ⚠ same residue
FLNC p.Asp1086His Uncertain significance ★ ⚠ same residue
FLNC p.Ser101Asn Uncertain significance ★★ same condition
FLNC p.Val884Leu Uncertain significance ★★ same condition
FLNC c.2920_2929+6delinsTCCA Likely pathogenic ★ same condition
FLNC c.2920_2929+6delinsTCCCA Likely pathogenic ★ same condition
FLNC p.Ala1183Leu 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-asp1086val (accessed [today's date]).

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