Is DSPP p.Ser947= (c.2841C>T) pathogenic?

DSPP p.Ser947= (c.2841C>T) is classified Likely benign in DSPP (ClinVar, Single submitter, 1 submitter; last evaluated 2025-03-01). Absent from gnomAD v4.1.

How common is DSPP p.Ser947= (c.2841C>T) in the general population?

DSPP p.Ser947= (c.2841C>T) is absent from gnomAD v4.1 (gnomAD).

DSPP p.Ser947=

c.2841C>T · VCV3777858

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

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 -20	GERP -1.8
Overall
CADD	0.532	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: DSPP
Protein: p.Ser947=
Coding: c.2841C>T
Type: single nucleotide variant
Location: chr4:87615503 (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-ser947 (accessed [today's date]).

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