Is FLNC p.Pro1144Arg (c.3431_3432delinsGT) pathogenic?

FLNC p.Pro1144Arg (c.34313432delinsGT) is classified Uncertain significance in FLNC (ClinVar, Single submitter, 1 submitter; last evaluated 2022-05-03). No gnomAD frequency available for this variant; Associated with distal myopathy with posterior leg and anterior hand involvement.

How common is FLNC p.Pro1144Arg (c.3431_3432delinsGT) in the general population?

FLNC p.Pro1144Arg (c.3431_3432delinsGT) is no gnomAD frequency available for this variant (gnomAD).

FLNC p.Pro1144Arg

Q: What condition is associated with FLNC p.Pro1144Arg (c.3431_3432delinsGT)?

FLNC p.Pro1144Arg (c.3431_3432delinsGT) is associated with distal myopathy with posterior leg and anterior hand involvement, myofibrillar myopathy 5, hypertrophic cardiomyopathy 26 (ClinVar).

Q: How is FLNC-related handgrip and calf weakness-distal myopathy inherited?

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

c.3431_3432delinsGT · rs2536637685 · VCV2131172

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

distal myopathy with posterior leg and anterior hand involvement

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 7.7	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.Pro1144Arg
Coding: c.3431_3432delinsGT
MANE Select: NM_001458
dbSNP: rs2536637685
Type: Indel
Location: chr7:128844896 (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

distal myopathy with posterior leg and anterior hand involvement — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: myofibrillar myopathy 5 hypertrophic cardiomyopathy 26

For FLNC-related handgrip and calf weakness-distal myopathy (Orphanet):

Inheritance: Autosomal dominant
Onset: Adolescent, Adult

Similar variants

FLNC p.Pro1144Leu Uncertain significance ★ ⚠ same residue
FLNC p.Pro1144Ser Uncertain significance ★ ⚠ same residue
FLNC p.Asp1086Val Uncertain significance ★★ same condition
FLNC p.Ser101Asn 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
FLNC p.Gln79Ter 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-pro1144arg (accessed [today's date]).

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