Is ADAMTS13 p.Pro52fs (c.155del) pathogenic?

ADAMTS13 p.Pro52fs (c.155del) is classified Pathogenic in ADAMTS13 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-12-20). Absent from gnomAD; Associated with thrombotic thrombocytopenic purpura.

What condition is associated with ADAMTS13 p.Pro52fs (c.155del)?

ADAMTS13 p.Pro52fs (c.155del) is associated with thrombotic thrombocytopenic purpura (ClinVar).

How common is ADAMTS13 p.Pro52fs (c.155del) in the general population?

ADAMTS13 p.Pro52fs (c.155del) is absent from gnomAD (gnomAD).

How is Thrombotic thrombocytopenic purpura inherited?

Typically Autosomal recessive, Multigenic/multifactorial (Orphanet). A genetic counselor can assess individual risk for a family.

ADAMTS13 p.Pro52fs

c.155del · rs2491047604 · VCV2691362

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

Conditions

thrombotic thrombocytopenic purpura

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 2 of 29
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 2.7	GERP 1.5, 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: ADAMTS13
Protein: p.Pro52fs
Coding: c.155del
MANE Select: NM_139027
dbSNP: rs2491047604
Type: Deletion
Location: chr9:133423148 (GRCh38)
Gene constraint: LOEUF 0.917 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 76.00 · 5 PDB
Residue 52: the 'disordered' region

Full ADAMTS13 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

thrombotic thrombocytopenic purpura — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Thrombotic thrombocytopenic purpura (Orphanet):

Inheritance: Autosomal recessive, Multigenic/multifactorial
Onset: All ages

Similar variants

ADAMTS13 p.Ile974fs Pathogenic ★★ same condition
ADAMTS13 p.Arg267fs Pathogenic ★ same condition
ADAMTS13 p.Ala596Val Pathogenic ★★ same condition
ADAMTS13 p.Arg1060Trp Pathogenic/Likely pathogenic ★★ ⚠ same condition
ADAMTS13 p.Cys1024Gly Pathogenic/Likely pathogenic ★★ same condition
ADAMTS13 p.Ile1161Thr Pathogenic/Likely pathogenic ★★ ⚠ same condition
ADAMTS13 p.Thr196Ile Pathogenic ★★ same condition
ADAMTS13 c.3400+141G>A Benign/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/adamts13-p-pro52fs (accessed [today's date]).

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