Is MTTP p.Val784fs (c.2349dup) pathogenic?

MTTP p.Val784fs (c.2349dup) is classified Pathogenic in MTTP (ClinVar, Single submitter, 1 submitter; last evaluated 2021-10-05). Absent from gnomAD.

How common is MTTP p.Val784fs (c.2349dup) in the general population?

MTTP p.Val784fs (c.2349dup) is absent from gnomAD (gnomAD).

MTTP p.Val784fs

c.2349dup · rs2110238242 · VCV1454038

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

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 17 of 18
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 4.1	GERP 0.73, 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: MTTP
Protein: p.Val784fs
Coding: c.2349dup
MANE Select: NM_001386140
dbSNP: rs2110238242
Type: Duplication
Location: chr4:99621066 (GRCh38)
Gene constraint: LOEUF 0.672 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 86.73 · 2 PDB
Residue 784: a β-strand

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

Similar variants

MTTP p.Val784Leu Uncertain significance ★ ⚠ same residue
MTTP p.Val784= Likely benign ★ same residue
MTTP p.Asn140fs Pathogenic ★★ same type
MTTP p.Glu134fs Pathogenic/Likely pathogenic ★★ same type
MTTP p.Ile344fs Pathogenic ★★ same type
MTTP p.Ile547fs Pathogenic/Likely pathogenic ★★ same type
MTTP p.Ala5fs Likely pathogenic ★ same type
MTTP p.Asp634fs Pathogenic ★ same type

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/mttp-p-val784fs (accessed [today's date]).

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