Is DSPP p.Asp1170fs (c.3504_3508dup) pathogenic?

DSPP p.Asp1170fs (c.35043508dup) is classified Likely pathogenic in DSPP (ClinVar, No assertion criteria, 1 submitter; last evaluated 2016-01-08). No gnomAD frequency available for this variant; Associated with Pulp calcification.

What condition is associated with DSPP p.Asp1170fs (c.3504_3508dup)?

DSPP p.Asp1170fs (c.3504_3508dup) is associated with Pulp calcification (ClinVar).

How common is DSPP p.Asp1170fs (c.3504_3508dup) in the general population?

DSPP p.Asp1170fs (c.3504_3508dup) is no gnomAD frequency available for this variant (gnomAD).

DSPP p.Asp1170fs

c.3504_3508dup · rs1553904512 · VCV548665

Likely pathogenic No assertion criteria

Classification

Likely pathogenic

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

Pulp calcification

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function; NMD-escape possible for C-terminal truncations
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP 1.1	GERP -0.004, phastCons 0.009
Region caveats
Repeat context	tandem	GATAGCAGT simple repeat · ambiguous alignment · confidence, not pathogenicity

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: DSPP
Protein: p.Asp1170fs
Coding: c.3504_3508dup
dbSNP: rs1553904512
Type: Duplication
Location: chr4:87616164 (GRCh38)

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

Disease context

Pulp calcification — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

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/dspp-p-asp1170fs (accessed [today's date]).

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