Is TTC7A p.Pro445Val (c.1333_1334delinsGT) pathogenic?

TTC7A p.Pro445Val (c.13331334delinsGT) is classified Uncertain significance in TTC7A (ClinVar, Single submitter, 1 submitter; last evaluated 2020-05-30). No gnomAD frequency available for this variant; Associated with multiple intestinal atresia.

What condition is associated with TTC7A p.Pro445Val (c.1333_1334delinsGT)?

TTC7A p.Pro445Val (c.1333_1334delinsGT) is associated with multiple intestinal atresia (ClinVar).

How common is TTC7A p.Pro445Val (c.1333_1334delinsGT) in the general population?

TTC7A p.Pro445Val (c.1333_1334delinsGT) is no gnomAD frequency available for this variant (gnomAD).

TTC7A p.Pro445Val

c.1333_1334delinsGT · rs2104485354 · VCV1054316

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

multiple intestinal atresia

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	GERP 1.4, phastCons 1
Regional constraint	o/e 1.20	unconstrained · MANE · 132 kb · p 2.2e-11 · 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: TTC7A
Protein: p.Pro445Val
Coding: c.1333_1334delinsGT
MANE Select: NM_020458
dbSNP: rs2104485354
Type: Indel
Location: chr2:47011376 (GRCh38)
Gene constraint: LOEUF 1.198 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 84.59

Full TTC7A gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

multiple intestinal atresia — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

TTC7A p.Pro445= Likely benign ★ same residue
TTC7A c.1203+16_1203+30delinsACGTACTG Uncertain significance ★ same condition
TTC7A p.Arg803Tyr Uncertain significance ★ same condition
TTC7A p.Glu101Ser Uncertain significance ★ same condition
TTC7A p.Leu748Pro Uncertain significance ★ same condition
TTC7A c.2355+18_2355+19delinsTT Likely benign ★ same condition
TTC7A c.348+7_348+8delinsGT Likely benign ★ same condition
TTC7A c.764+11_764+12delinsCT Likely benign ★ 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/ttc7a-p-pro445val (accessed [today's date]).

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