Is CC2D2A p.Ala1577fs (c.4730_4731delinsTGTATA) pathogenic?

CC2D2A p.Ala1577fs (c.47304731delinsTGTATA) is classified Pathogenic in CC2D2A (ClinVar, No assertion criteria, 1 submitter; last evaluated 2022-04-19). No gnomAD frequency available for this variant; Associated with retinitis pigmentosa 93.

What condition is associated with CC2D2A p.Ala1577fs (c.4730_4731delinsTGTATA)?

CC2D2A p.Ala1577fs (c.4730_4731delinsTGTATA) is associated with retinitis pigmentosa 93 (ClinVar).

How common is CC2D2A p.Ala1577fs (c.4730_4731delinsTGTATA) in the general population?

CC2D2A p.Ala1577fs (c.4730_4731delinsTGTATA) is no gnomAD frequency available for this variant (gnomAD).

How is Retinitis pigmentosa inherited?

Typically Autosomal dominant, Autosomal recessive (Orphanet). A genetic counselor can assess individual risk for a family.

CC2D2A p.Ala1577fs

c.4730_4731delinsTGTATA · rs2148497420 · VCV1686898

Pathogenic No assertion criteria

Classification

Pathogenic

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

retinitis pigmentosa 93

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function
NMD	escapes	premature termination codon in the last exon (37 of 37) — the truncated protein is likely expressed. PVS1 input, not an applied code
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 5.9	GERP 2.5, 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: CC2D2A
Protein: p.Ala1577fs
Coding: c.4730_4731delinsTGTATA
MANE Select: NM_001378615
dbSNP: rs2148497420
Type: Indel
Location: chr4:15601292 (GRCh38)
Gene constraint: LOEUF 0.854 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 69.46

Full CC2D2A gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

retinitis pigmentosa 93 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Retinitis pigmentosa (Orphanet):

Inheritance: Autosomal dominant, Autosomal recessive, Mitochondrial inheritance
Onset: Adolescent, Adult, Childhood
Prevalence: 1-5 / 10 000 (Europe)

Similar variants

CC2D2A p.Ala1577Thr Conflicting classifications of pathogenicity ★ ⚠ same residue
CC2D2A p.Thr1297Arg Uncertain significance ★★ same condition
CC2D2A p.Ser133fs Likely pathogenic ★ same condition
CC2D2A p.Ala1577Gly Uncertain significance ★ ⚠ same residue
CC2D2A p.Pro1066_Ser1067= Uncertain significance ★ same condition
CC2D2A p.Ala1577= Likely benign ★ same residue
CC2D2A c.1017+1G>A Pathogenic/Likely pathogenic ★★ same condition
CC2D2A c.1359+1G>A Pathogenic/Likely pathogenic ★★ 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/cc2d2a-p-ala1577fs (accessed [today's date]).

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