Is DSPP p.Asp597= (c.1791T>C) pathogenic?

DSPP p.Asp597= (c.1791T>C) is classified Conflicting classifications of pathogenicity in DSPP (ClinVar, Conflicting submitters, 3 submitters; last evaluated 2025-12-03). Rare (popmax 0.142%, afr).

How common is DSPP p.Asp597= (c.1791T>C) in the general population?

DSPP p.Asp597= (c.1791T>C) is rare (popmax 0.142%, afr) (gnomAD).

DSPP p.Asp597=

c.1791T>C · rs372743728 · VCV282146

Conflicting classifications of pathogenicity Conflicting submitters

Classification

Conflicting classifications of pathogenicity

ClinVar

Review

Conflicting submitters ★☆☆☆

ClinVar · 3 submitters

gnomAD v4.1

Rare

rare (popmax 0.142%, afr)

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 -4	GERP -2.4
Overall
CADD	0.165	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.142% African / African-American · 104/72,992 alleles

Filtering AF 0.12% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.112%

Overall 0.00773% 120/1,551,934 alleles · rare

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.142%	702
Admixed American	0.0137%	7,289
Remaining individualsnot grpmax-eligible	0.00831%	12,029
South Asian	0.00475%	21,031

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.Asp597=
Coding: c.1791T>C
dbSNP: rs372743728
Type: single nucleotide variant
Location: chr4:87614453 (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-asp597 (accessed [today's date]).

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