Is DST p.Ser4401fs (c.13202_13203del) pathogenic?

DST p.Ser4401fs (c.1320213203del) is classified Pathogenic in DST (ClinVar, Single submitter, 1 submitter; last evaluated 2024-05-29). Associated with hereditary sensory and autonomic neuropathy type 6.

What condition is associated with DST p.Ser4401fs (c.13202_13203del)?

DST p.Ser4401fs (c.13202_13203del) is associated with hereditary sensory and autonomic neuropathy type 6, epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency (ClinVar).

DST p.Ser4401fs

Q: How is Hereditary sensory and autonomic neuropathy type 6 inherited?

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

c.13202_13203del · VCV3756599

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

hereditary sensory and autonomic neuropathy type 6

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function in a LoF-intolerant gene
NMD	predicted	premature termination codon in exon 51 of 104
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP -0.22	GERP 0.012

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Variant & gene context

Gene: DST
Protein: p.Ser4401fs
Coding: c.13202_13203del
MANE Select: NM_001374736
Type: Microsatellite
Location: chr6:56573712 (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

hereditary sensory and autonomic neuropathy type 6 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency

For Hereditary sensory and autonomic neuropathy type 6 (Orphanet):

Inheritance: Autosomal recessive
Onset: Infancy, Neonatal

Similar variants

DST p.Phe3921del Uncertain significance ★★ same condition
DST c.21403-23TG[17] Likely benign ★★ same condition
DST c.21403-23TG[18] Benign/Likely benign ★★ same condition
DST c.21403-23TG[19] Benign/Likely benign ★★ same condition
DST c.21403-23TG[20] Likely benign ★★ same condition
DST c.21403-23TG[6] Benign/Likely benign ★★ same condition
DST c.21403-23TG[8] Likely benign ★★ same condition
DST p.Leu1732fs 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-ser4401fs (accessed [today's date]).

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