Is DCC p.Ala323fs (c.965_966dup) pathogenic?

DCC p.Ala323fs (c.965966dup) is classified Pathogenic in DCC (ClinVar, Single submitter, 1 submitter; last evaluated 2023-01-01). Absent from gnomAD.

How common is DCC p.Ala323fs (c.965_966dup) in the general population?

DCC p.Ala323fs (c.965_966dup) is absent from gnomAD (gnomAD).

DCC p.Ala323fs

c.965_966dup · rs2511470526 · VCV2498740

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function in a LoF-intolerant gene
NMD	predicted	premature termination codon in exon 5 of 29
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 7.6	GERP 2.4, phastCons 1

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: DCC
Protein: p.Ala323fs
Coding: c.965_966dup
MANE Select: NM_005215
dbSNP: rs2511470526
Type: Microsatellite
Location: chr18:52925347 (GRCh38)
Gene constraint: LOEUF 0.414 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 68.60 · 9 PDB
Residue 323: a UniProt-annotated variant site (in mrmv1; likely pathogenic); the ig-like c2-type 3 domain

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

Similar variants

DCC p.Thr146fs Pathogenic/Likely pathogenic ★★ same type
DCC p.Leu786fs Pathogenic ★ same type
DCC p.Thr610fs Likely pathogenic ★ same type
DCC p.Ile742del Uncertain significance ★ same type
DCC c.2359+12_2359+13del Benign ★ same type
DCC c.413-17_413-15del Likely benign ★ same type
DCC p.Leu1279fs Pathogenic same type

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/dcc-p-ala323fs (accessed [today's date]).

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