Is DIP2C p.Val1318fs (c.3949_3950dup) pathogenic?

DIP2C p.Val1318fs (c.39493950dup) is classified Likely pathogenic in DIP2C (ClinVar, Single submitter, 1 submitter; last evaluated 2026-01-25). Associated with DIP2C-related disorder.

What condition is associated with DIP2C p.Val1318fs (c.3949_3950dup)?

DIP2C p.Val1318fs (c.3949_3950dup) is associated with DIP2C-related disorder (ClinVar).

DIP2C p.Val1318fs

c.3949_3950dup · VCV4854387

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

DIP2C-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 LoF-intolerant gene
NMD	predicted	premature termination codon in exon 32 of 37
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 0.014	GERP -5, phastCons 0.13

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

Variant & gene context

Gene: DIP2C
Protein: p.Val1318fs
Coding: c.3949_3950dup
MANE Select: NM_014974
Type: Duplication
Location: chr10:310066 (GRCh38)
Gene constraint: LOEUF 0.235 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 79.64

Full DIP2C gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

DIP2C-related disorder

Similar variants

DIP2C c.1756+1dup Likely pathogenic ★ same condition
DIP2C p.Ser142Ala Uncertain significance ★★ ⚠ same condition
DIP2C c.2268+1G>A Likely pathogenic ★ same condition
DIP2C p.Arg1539Ter Conflicting classifications of pathogenicity ★ ⚠ same condition
DIP2C p.Arg77= Uncertain significance ★ same condition
DIP2C p.Val1440Ile Uncertain significance ★ ⚠ same condition
DIP2C p.Thr501Ser Uncertain significance ⚠ same condition
DIP2C p.Val1105Phe 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/dip2c-p-val1318fs (accessed [today's date]).

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