Is DST p.Glu4322del (c.12965_12967del) pathogenic?

DST p.Glu4322del (c.1296512967del) is classified Uncertain significance in DST (ClinVar, Single submitter, 1 submitter; last evaluated 2020-06-30). Absent from gnomAD; Associated with Inborn genetic diseases.

What condition is associated with DST p.Glu4322del (c.12965_12967del)?

DST p.Glu4322del (c.12965_12967del) is associated with Inborn genetic diseases (ClinVar).

How common is DST p.Glu4322del (c.12965_12967del) in the general population?

DST p.Glu4322del (c.12965_12967del) is absent from gnomAD (gnomAD).

DST p.Glu4322del

c.12965_12967del · rs2535864112 · VCV1754443

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

Inborn genetic diseases

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 8.1	GERP -0.45, phastCons 1

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: DST
Protein: p.Glu4322del
Coding: c.12965_12967del
MANE Select: NM_001374736
dbSNP: rs2535864112
Type: Deletion
Location: chr6:56578874 (GRCh38)
Gene constraint: LOEUF 0.297 · pLI 1.00 (gnomAD)

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

Disease context

Inborn genetic diseases — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

DST p.Gln5053fs Pathogenic ★ same condition
DST p.Gly5522fs Pathogenic ★ same condition
DST p.Phe4492_Leu4493insTer Pathogenic ★ same condition
DST p.Thr5177fs Pathogenic ★ same condition
DST c.14441-7_14441-6del Conflicting classifications of pathogenicity ★ same condition
DST c.16771-3del Uncertain significance ★ same condition
DST p.Glu5750del Uncertain significance ★ same condition
DST p.Gln4023Ter Pathogenic/Likely pathogenic ★★ 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/dst-p-glu4322del (accessed [today's date]).

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