Is INF2 p.Ser601fs (c.1794_1801dup) pathogenic?

INF2 p.Ser601fs (c.17941801dup) is classified Uncertain significance in INF2 (ClinVar, Single submitter, 1 submitter; last evaluated 2024-12-16). No gnomAD frequency available for this variant; Associated with focal segmental glomerulosclerosis 5.

What condition is associated with INF2 p.Ser601fs (c.1794_1801dup)?

INF2 p.Ser601fs (c.1794_1801dup) is associated with focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E (ClinVar).

How common is INF2 p.Ser601fs (c.1794_1801dup) in the general population?

INF2 p.Ser601fs (c.1794_1801dup) is no gnomAD frequency available for this variant (gnomAD).

INF2 p.Ser601fs

c.1794_1801dup · rs2541925439 · VCV2112890

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

focal segmental glomerulosclerosis 5

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 23
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 4.2	GERP 5.3, 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: INF2
Protein: p.Ser601fs
Coding: c.1794_1801dup
MANE Select: NM_022489
dbSNP: rs2541925439
Type: Duplication
Location: chr14:104708492 (GRCh38)
Gene constraint: LOEUF 0.526 · pLI 0.33 · ClinGen HI 0/3 (gnomAD)
Structure: AlphaFold pLDDT 67.34 · 10 PDB
Residue 601: the fh2 domain; an α-helix

Full INF2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

focal segmental glomerulosclerosis 5 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: Charcot-Marie-Tooth disease dominant intermediate E

Similar variants

INF2 p.Leu466_Gly482dup Uncertain significance ★★ same condition
INF2 c.392-13_392-9dup Benign/Likely benign ★★ same condition
INF2 c.1736-9_1736-7dup Conflicting classifications of pathogenicity ★ same condition
INF2 c.2310_2310+2dup Uncertain significance ★ same condition
INF2 c.2878+19_2878+48dup Uncertain significance ★ same condition
INF2 p.Glu70_Leu74dup Uncertain significance ★ same condition
INF2 p.Ile222dup Uncertain significance ★ same condition
INF2 p.Leu446fs Uncertain significance ★ 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/inf2-p-ser601fs (accessed [today's date]).

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