Is DSPP p.Asp893= (c.2679C>T) pathogenic?

DSPP p.Asp893= (c.2679C>T) is classified Uncertain significance in DSPP (ClinVar, Single submitter, 1 submitter; last evaluated 2014-10-15). Very rare (popmax 8.83e-05%, nfe).

How common is DSPP p.Asp893= (c.2679C>T) in the general population?

DSPP p.Asp893= (c.2679C>T) is very rare (popmax 8.83e-05%, nfe) (gnomAD).

DSPP p.Asp893=

c.2679C>T · rs794727725 · VCV197806

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 8.83e-05%, nfe)

⚠ Built without this gene's context — gene constraint and dosage, protein structure, pathways, panels and related-variant links were not looked up for this page. why

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP -5.7	GERP -1.8
Overall
CADD	0.441	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 8.83e-05% European (non-Finnish) · 1/1,132,426 alleles

Overall 6.56e-05% 1/1,524,272 alleles · very rare exomes 1/1,373,674 · genomes 0/150,598 · joint denominator

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: DSPP
Protein: p.Asp893=
Coding: c.2679C>T
MANE Select: NM_014208
dbSNP: rs794727725
Type: single nucleotide variant
Location: chr4:87615341 (GRCh38)

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

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-asp893 (accessed [today's date]).

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