Is DBT p.Pro244fs (c.731del) pathogenic?

DBT p.Pro244fs (c.731del) is classified Likely pathogenic in DBT (ClinVar, Single submitter, 1 submitter; last evaluated 2016-11-18). Absent from gnomAD.

How common is DBT p.Pro244fs (c.731del) in the general population?

DBT p.Pro244fs (c.731del) is absent from gnomAD (gnomAD).

DBT p.Pro244fs

c.731del · rs1064795955 · VCV422717

Likely pathogenic Single submitter

Classification

Likely 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 6 of 11
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 2.5	GERP -3.5, 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: DBT
Protein: p.Pro244fs
Coding: c.731del
MANE Select: NM_001918
dbSNP: rs1064795955
Type: Deletion
Location: chr1:100216024 (GRCh38)
Gene constraint: LOEUF 1.255 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 78.71 · 5 PDB

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

Similar variants

DBT c.434-15_434-4del Pathogenic/Likely pathogenic ★★ same type
DBT p.Cys26fs Pathogenic ★★ same type
DBT p.Lys120fs Pathogenic ★★ same type
DBT p.Phe276fs Pathogenic/Likely pathogenic ★★ same type
DBT p.Pro238fs Pathogenic ★★ same type
DBT p.Thr153fs Pathogenic/Likely pathogenic ★★ same type
DBT p.Thr388_Thr389insTer Likely pathogenic ★★ same type
DBT p.Thr91fs 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/dbt-p-pro244fs (accessed [today's date]).

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