Is DLL1 p.Pro95= (c.285C>T) pathogenic?

DLL1 p.Pro95= (c.285C>T) is classified Likely benign in DLL1 (ClinVar, No assertion criteria, 1 submitter; last evaluated 2020-08-10). Absent from gnomAD v4.1; Associated with DLL1-related disorder.

What condition is associated with DLL1 p.Pro95= (c.285C>T)?

DLL1 p.Pro95= (c.285C>T) is associated with DLL1-related disorder (ClinVar).

How common is DLL1 p.Pro95= (c.285C>T) in the general population?

DLL1 p.Pro95= (c.285C>T) is absent from gnomAD v4.1 (gnomAD).

DLL1 p.Pro95=

c.285C>T · rs1583157565 · VCV3033045

Likely benign No assertion criteria

Classification

Likely benign

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,535,308)

Conditions

DLL1-related disorder

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -5.6	GERP -3.4
Overall
CADD	2.896	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,535,308). 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: DLL1
Protein: p.Pro95=
Coding: c.285C>T
MANE Select: NM_005618
dbSNP: rs1583157565
Type: single nucleotide variant
Location: chr6:170289578 (GRCh38)
Gene constraint: LOEUF 0.236 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 75.24 · 1 PDB
Residue 95: a UniProt-annotated variant site (in nedbas)

Full DLL1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

DLL1-related disorder

Similar variants

DLL1 p.Pro95Ser Uncertain significance ★★ ⚠ same residue
DLL1 p.Gly475Asp Uncertain significance ★★ ⚠ same condition
DLL1 p.Val709Phe Uncertain significance ★★ ⚠ same condition
DLL1 p.Gln270Ter Likely pathogenic ★ same condition
DLL1 p.Pro261Leu Uncertain significance ★ ⚠ same condition
DLL1 p.Thr587Met Conflicting classifications of pathogenicity ★ ⚠ same condition
DLL1 p.Cys325Ter Likely pathogenic same condition
DLL1 p.Gly669Ala Uncertain significance ⚠ 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/dll1-p-pro95 (accessed [today's date]).

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