Is TULP1 p.Thr67Arg (c.200_201delinsGA) pathogenic?

TULP1 p.Thr67Arg (c.200201delinsGA) is classified Likely benign in TULP1 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-05-23). No gnomAD frequency available for this variant.

How common is TULP1 p.Thr67Arg (c.200_201delinsGA) in the general population?

TULP1 p.Thr67Arg (c.200_201delinsGA) is no gnomAD frequency available for this variant (gnomAD).

TULP1 p.Thr67Arg

c.200_201delinsGA · rs2533809491 · VCV2779482

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

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.
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 1.1	GERP -0.27, phastCons 0.001
Regional constraint	o/e 1.05	unconstrained · MANE · 3,598 bp · p 0.36 · 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: TULP1
Protein: p.Thr67Arg
Coding: c.200_201delinsGA
MANE Select: NM_003322
dbSNP: rs2533809491
Type: Indel
Location: chr6:35511796 (GRCh38)
Gene constraint: LOEUF 1.019 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 66.10 · 2 PDB
Residue 67: the 'disordered' region; a UniProt-annotated variant site (in)

Full TULP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

TULP1 c.183_190+70delinsA Likely pathogenic ★ same type
TULP1 p.Ala81fs Likely pathogenic ★ same type
TULP1 p.Val226fs Pathogenic ★ same type
TULP1 c.1113-9_1113delinsCATC Conflicting classifications of pathogenicity ★ same type
TULP1 p.Lys261_Ser262delinsAsnArg Uncertain significance ★ same type
TULP1 p.Pro70_Arg71= Likely benign ★ 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/tulp1-p-thr67arg (accessed [today's date]).

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